Have questions? Visit https://www.reddit.com/r/SNPedia

rs4778138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 freckles more likely
Make rs4778138(A;G)
Make rs4778138(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position28090674
GeneOCA2
is asnp
is mentioned by
dbSNPrs4778138
ebirs4778138
HLIrs4778138
Exacrs4778138
Varsomers4778138
Maprs4778138
PheGenIrs4778138
hapmaprs4778138
1000 genomesrs4778138
hgdprs4778138
ensemblrs4778138
gopubmedrs4778138
geneviewrs4778138
scholarrs4778138
googlers4778138
pharmgkbrs4778138
gwascentralrs4778138
openSNPrs4778138
23andMers4778138
23andMe allrs4778138
SNP Nexus

SNPshotrs4778138
SNPdbers4778138
MSV3drs4778138
GWAS Ctlgrs4778138
Merged fromRs11855019
GMAF0.4467
Max Magnitude1
? (A;A) (A;G) (G;G) 28

10.1371/journal.pgen.1000993 freckling

OMIM227220
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Variant
Relatedalso
OMIM611409
DescOCA2 GENE
Variant
Relatedalso
OMIM611409
Desc
Variant0013
Relatedalso
[PMID 17236130OA-icon.png] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.


[PMID 18252221OA-icon.png] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.


[PMID 18252222OA-icon.png] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.


[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.


[PMID 18528436] Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.


[PMID 18683857] Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.


[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.