Mortimer
04-27-2018, 07:54 AM
It seems I have some blue eyed/gray genes too but I dont have blue eyes its interesting. The Frequency refers to the reference population mine was Caucasians from Northern and Western Europe by default. I didnt changed it though.
Eye Colour
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
29.2% Frequency
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
PGx
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
2 Magnitude
29.2% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2010-06-25 Geno Modified
0.1079 GMAF
10 Publications
LOC107984363 TYR Genes
11 Chromosome
89277878 Position
3 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color Medical Conditions Melanoma Vitiligo
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2016-06-25 Geno Modified
0.4582 GMAF
Other ClinVar Significance
7 Publications
HERC2 Genes
15 Chromosome
28285036 Position
1.5 Max Magnitude
2018-01-06 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
ClinVar Other Skin/hair/eye pigmentation
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
more info
96.8% Frequency
rs7183877(C;C)
rs7183877 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
88.5% Frequency
rs1003719(A;G)
46.8% Frequency
rs1129038(G;G)
rs1129038 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
rs8028689(C;T)
rs8028689 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
10.6% Frequency
PGx
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
2 Magnitude
29.2% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2010-06-25 Geno Modified
0.1079 GMAF
10 Publications
LOC107984363 TYR Genes
11 Chromosome
89277878 Position
3 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color Medical Conditions Melanoma Vitiligo
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2016-06-25 Geno Modified
0.4582 GMAF
Other ClinVar Significance
7 Publications
HERC2 Genes
15 Chromosome
28285036 Position
1.5 Max Magnitude
2018-01-06 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
ClinVar Other Skin/hair/eye pigmentation
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
more info
1.1 Magnitude
96.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2015-05-25 Geno Modified
0.4408 GMAF
Other ClinVar Significance
24 Publications
SLC45A2 Genes
5 Chromosome
33951588 Position
2 Max Magnitude
2018-03-21 Rs Modified
plus Stabilized
plus Orientation
ambig
Topics Appearance Doi:10.1186/1471-2156-10-88 Eye color Hair color Mendeliome Skin color
ClinVar Other not specified Malignant melanoma of skin Skin/hair/eye pigmentation
rs1408799(T;T)
[OMIM:TYROSINASE-RELATED PROTEIN 1; TYRP1] [GWAS:Eye color] [GWAS:Blue vs. green eyes]
more info
1 Magnitude
8.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.3499 GMAF
3 Publications
9 Chromosome
12672097 Position
0 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Appearance Appearance/Eye color Eye color
rs2835621(A;G)
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865509/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865509/table/pgen-1000934-t002/
more info
1 Magnitude
54% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.4316 GMAF
1 Publications
TTC3 Genes
21 Chromosome
37138316 Position
2015-01-04 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs7183877(C;C)
rs7183877 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
88.5% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.1703 GMAF
4 Publications
HERC2 Genes
15 Chromosome
28120587 Position
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs1003719(A;G)
[GWAS:Eye color traits]
more info
1 Magnitude
46.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.4449 GMAF
1 Publications
TTC3 Genes
21 Chromosome
37118795 Position
2017-09-03 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs1129038(G;G)
rs1129038 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
0.2929 GMAF
11 Publications
HERC2 Genes
15 Chromosome
28111713 Position
2017-12-27 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
rs8028689(C;T)
rs8028689 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
10.6% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.2378 GMAF
4 Publications
HERC2 Genes
15 Chromosome
28243742 Position
2017-09-03 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs4778241(A;C)
rs4778241 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G) (this appears to be the causative SNP)
rs7183877(C)
rs3935591(G)
rs7170852(A) (this snp seems flipped, or odd)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene....
28.3% Frequency
rs1800407(G;G)
blue/gray eyes more possible
rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. [, ; OMIM 203200.0012] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for...
Appearance
rs1426654(A;G)
mixed European + (African or Asian) ancestry possible This G is not found in European populations. Suggests at least half ancestry with African or Asian populations.
This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned West Eurasian ancestry. [, ] It appears as if this SNP is a relatively new one in human evolution; one estimate is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, "European ancestors" were most likely relatively brown-skinned. Another study () has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago. This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either West Eurasian (Middle Eastern, Caucasian, European, etc.), African, or East Eurasian, based on a 2009 study....
rs1015362(G;G)
2-4x higher risk of sun sensitivity if part of risk haplotype. Increased risk of sunburns and freckles instead of tanning.
rs1015362 is a SNP near the ASIP (agouti signaling protein) gene on chromosome 20. This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for "freckles and burns vs. no freckles and tans" for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051. Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1.2 x 10...
52.2% Frequency
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
rs227731(A;A)
Associated with European Facial Appearance
• rs7590268
• rs16903544
• rs987525
• rs9574565
• rs227731
• rs642961
• rs1258763
more info
22.1% Frequency
rs7349332(C;C)
straighter hair; common
80.5% Frequency
rs9574565(C;C)
Associated with European Facial Appearance
• rs7590268
• rs16903544
• rs987525
• rs9574565
• rs227731
• rs642961
• rs1258763
more info
61.1% Frequency
Morpholigical traits
it says darker skin colour but 80% of caucasians from northern and western europe have it too
rs885479(G;G)
darker skin color
80.4% Frequency
again blue/gray eyes possible
rs1800401(C;C)
blue/gray eyes possible
rs1800401 is located in exon 7 of the OCA2 gene at amino acid position 305. The (T) allele encodes the amino acid tryptophan (instead of arginine), and it is one of several SNPs associated with increased odds of having brown or black eye color in Caucasians. One copy of of rs1800401(T) is sufficient for this effect. [, ; OMIM 203200.0011]
more info
rs1800407(G;G)
blue/gray eyes more possible
rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. [, ; OMIM 203200.0012] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for...
more info
1 Magnitude
85.8% Frequency
Eye Colour
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
29.2% Frequency
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
PGx
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
2 Magnitude
29.2% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2010-06-25 Geno Modified
0.1079 GMAF
10 Publications
LOC107984363 TYR Genes
11 Chromosome
89277878 Position
3 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color Medical Conditions Melanoma Vitiligo
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2016-06-25 Geno Modified
0.4582 GMAF
Other ClinVar Significance
7 Publications
HERC2 Genes
15 Chromosome
28285036 Position
1.5 Max Magnitude
2018-01-06 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
ClinVar Other Skin/hair/eye pigmentation
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
more info
96.8% Frequency
rs7183877(C;C)
rs7183877 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
88.5% Frequency
rs1003719(A;G)
46.8% Frequency
rs1129038(G;G)
rs1129038 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
rs8028689(C;T)
rs8028689 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
10.6% Frequency
PGx
rs1393350(A;G)
23andMe blog rs1393350 A 1.29 Melanoma rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Digital quantification of human eye color highlights genetic association of three new loci.
more info
2 Magnitude
29.2% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2010-06-25 Geno Modified
0.1079 GMAF
10 Publications
LOC107984363 TYR Genes
11 Chromosome
89277878 Position
3 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color Medical Conditions Melanoma Vitiligo
rs1667394(G;G)
darker skin, eye and hair color is more likely
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).
more info
1.5 Magnitude
0.9% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2016-06-25 Geno Modified
0.4582 GMAF
Other ClinVar Significance
7 Publications
HERC2 Genes
15 Chromosome
28285036 Position
1.5 Max Magnitude
2018-01-06 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
ClinVar Other Skin/hair/eye pigmentation
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
more info
1.1 Magnitude
96.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
2015-05-25 Geno Modified
0.4408 GMAF
Other ClinVar Significance
24 Publications
SLC45A2 Genes
5 Chromosome
33951588 Position
2 Max Magnitude
2018-03-21 Rs Modified
plus Stabilized
plus Orientation
ambig
Topics Appearance Doi:10.1186/1471-2156-10-88 Eye color Hair color Mendeliome Skin color
ClinVar Other not specified Malignant melanoma of skin Skin/hair/eye pigmentation
rs1408799(T;T)
[OMIM:TYROSINASE-RELATED PROTEIN 1; TYRP1] [GWAS:Eye color] [GWAS:Blue vs. green eyes]
more info
1 Magnitude
8.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.3499 GMAF
3 Publications
9 Chromosome
12672097 Position
0 Max Magnitude
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Appearance Appearance/Eye color Eye color
rs2835621(A;G)
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865509/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865509/table/pgen-1000934-t002/
more info
1 Magnitude
54% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.4316 GMAF
1 Publications
TTC3 Genes
21 Chromosome
37138316 Position
2015-01-04 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs7183877(C;C)
rs7183877 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
88.5% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.1703 GMAF
4 Publications
HERC2 Genes
15 Chromosome
28120587 Position
2018-01-06 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs1003719(A;G)
[GWAS:Eye color traits]
more info
1 Magnitude
46.8% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.4449 GMAF
1 Publications
TTC3 Genes
21 Chromosome
37118795 Position
2017-09-03 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs1129038(G;G)
rs1129038 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
0.2929 GMAF
11 Publications
HERC2 Genes
15 Chromosome
28111713 Position
2017-12-27 Rs Modified
minus Stabilized
minus Orientation
Topics Eye color
rs8028689(C;T)
rs8028689 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
more info
1 Magnitude
10.6% Frequency
TSI
MKK
MEX
LWK
GIH
CHD
ASW
YRI
JPT
HCB
CEU
0
12.5
25
37.5
50
62.5
75
87.5
100
0.2378 GMAF
4 Publications
HERC2 Genes
15 Chromosome
28243742 Position
2017-09-03 Rs Modified
plus Stabilized
plus Orientation
Topics Eye color
rs4778241(A;C)
rs4778241 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows: rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G) (this appears to be the causative SNP)
rs7183877(C)
rs3935591(G)
rs7170852(A) (this snp seems flipped, or odd)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene....
28.3% Frequency
rs1800407(G;G)
blue/gray eyes more possible
rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. [, ; OMIM 203200.0012] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for...
Appearance
rs1426654(A;G)
mixed European + (African or Asian) ancestry possible This G is not found in European populations. Suggests at least half ancestry with African or Asian populations.
This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned West Eurasian ancestry. [, ] It appears as if this SNP is a relatively new one in human evolution; one estimate is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, "European ancestors" were most likely relatively brown-skinned. Another study () has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago. This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either West Eurasian (Middle Eastern, Caucasian, European, etc.), African, or East Eurasian, based on a 2009 study....
rs1015362(G;G)
2-4x higher risk of sun sensitivity if part of risk haplotype. Increased risk of sunburns and freckles instead of tanning.
rs1015362 is a SNP near the ASIP (agouti signaling protein) gene on chromosome 20. This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for "freckles and burns vs. no freckles and tans" for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051. Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1.2 x 10...
52.2% Frequency
rs16891982(G;G)
Generally European; Light skin; Possibly an increased risk of melanoma This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin. In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all)....
rs227731(A;A)
Associated with European Facial Appearance
• rs7590268
• rs16903544
• rs987525
• rs9574565
• rs227731
• rs642961
• rs1258763
more info
22.1% Frequency
rs7349332(C;C)
straighter hair; common
80.5% Frequency
rs9574565(C;C)
Associated with European Facial Appearance
• rs7590268
• rs16903544
• rs987525
• rs9574565
• rs227731
• rs642961
• rs1258763
more info
61.1% Frequency
Morpholigical traits
it says darker skin colour but 80% of caucasians from northern and western europe have it too
rs885479(G;G)
darker skin color
80.4% Frequency
again blue/gray eyes possible
rs1800401(C;C)
blue/gray eyes possible
rs1800401 is located in exon 7 of the OCA2 gene at amino acid position 305. The (T) allele encodes the amino acid tryptophan (instead of arginine), and it is one of several SNPs associated with increased odds of having brown or black eye color in Caucasians. One copy of of rs1800401(T) is sufficient for this effect. [, ; OMIM 203200.0011]
more info
rs1800407(G;G)
blue/gray eyes more possible
rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. [, ; OMIM 203200.0012] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for...
more info
1 Magnitude
85.8% Frequency