Condition: Eye Color
rs12510870 in
AFM gene and
Eye Color
PMID 29109912 2017 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.
rs13431891 in
CTNNA2 gene and
Eye Color
PMID 23486544 2013 Genetics of eye colours in different rural populations on the Silk Road.
rs288139 in
FBXL17 gene and
Eye Color
PMID 23118974 2012 Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
rs1129038 in
HERC2 gene and
Eye Color
PMID 23486544 2013 Genetics of eye colours in different rural populations on the Silk Road.
PMID 23548203 2013 Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)).
PMID 20463881 2010 Digital quantification of human eye color highlights genetic association of three new loci.
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
PMID 23118974 2012 Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
PMID 23118974 2012 In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits.
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 18252221 2008 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
rs2278745 in
HK1 gene and
Eye Color
PMID 29109912 2017 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.
rs12203592 in
IRF4 gene and
Eye Color
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
rs12520016 in
LINC02236;LOC102724943 gene and
Eye Color
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
rs12896399 in
LOC105370627 gene and
Eye Color
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
rs1393350 in
LOC107984363;TYR gene and
Eye Color
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
rs9894429 in
NPLOC4 gene and
Eye Color
PMID 20463881 2010 Digital quantification of human eye color highlights genetic association of three new loci.
rs11855019 in
OCA2 gene and
Eye Color
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 23548203 2013 Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)).
PMID 23486544 2013 Genetics of eye colours in different rural populations on the Silk Road.
PMID 29109912 2017 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.
rs16891982 in
SLC45A2 gene and
Eye Color
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
rs1003719 in
TTC3 gene and
Eye Color
PMID 20463881 2010 Digital quantification of human eye color highlights genetic association of three new loci.
rs3002288 in
VASH2 gene and
Eye Color
PMID 23548203 2013 Using blue, intermediate (including green) and brown eye colors as co-dominant outcomes, we identified the SNP rs3002288 in VASH2 on 1q32.3 associated with brown eye (P = 7.0 × 10(-8); P = 5.3 × 10(-5) in the discovery set and P = 0.02 in the replication set).