rs4778138

plus

Geno	Mag	Summary
(A;A)	1	freckles more likely

Make rs4778138(A;G)

Make rs4778138(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

28090674

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs4778138
dbSNP (classic)	rs4778138
ClinGen	rs4778138
ebi	rs4778138
HLI	rs4778138
Exac	rs4778138
Gnomad	rs4778138
Varsome	rs4778138
LitVar	rs4778138
Map	rs4778138
PheGenI	rs4778138
Biobank	rs4778138
1000 genomes	rs4778138
hgdp	rs4778138
ensembl	rs4778138
geneview	rs4778138
scholar	rs4778138
google	rs4778138
pharmgkb	rs4778138
gwascentral	rs4778138
openSNP	rs4778138
23andMe	rs4778138
SNPshot	rs4778138
SNPdbe	rs4778138
MSV3d	rs4778138
GWAS Ctlg	rs4778138

Merged from

0.4467

1

(A;A) (A;G) (G;G)

28

10.1371/journal.pgen.1000993 freckling

OMIM	227220
Desc	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Variant
Related	also

OMIM	611409
Desc	OCA2 GENE
Variant
Related	also

OMIM	611409
Desc
Variant	0013
Related	also

[PMID 17236130 ] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

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

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

[PMID 18483556 ] 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 20585627 ] Web-based, participant-driven studies yield novel genetic associations for common traits.