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rs1800401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 blue/gray eyes possible
(C;T) 1 brown/black eyes more likely
(T;T) 1 brown/black eyes more likely
ReferenceGRCh38 38.1/142
Chromosome15
Position28014907
GeneOCA2
is asnp
is mentioned by
dbSNPrs1800401
dbSNP (classic)rs1800401
ClinGenrs1800401
ebirs1800401
HLIrs1800401
Exacrs1800401
Gnomadrs1800401
Varsomers1800401
LitVarrs1800401
Maprs1800401
PheGenIrs1800401
Biobankrs1800401
1000 genomesrs1800401
hgdprs1800401
ensemblrs1800401
geneviewrs1800401
scholarrs1800401
googlers1800401
pharmgkbrs1800401
gwascentralrs1800401
openSNPrs1800401
23andMers1800401
23andMe allrs1800401
SNPshotrs1800401
SNPdbers1800401
MSV3drs1800401
GWAS Ctlgrs1800401
GMAF0.06336
Max Magnitude1

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. [PMID 12163334, PMID 15889046; OMIM 203200.0011]

OMIM611409
Desc
Variant0011
Relatedalso


ClinVar
Risk Rs1800401(T;T)
Alt Rs1800401(T;T)
Reference Rs1800401(C;C)
Significance Other
Disease Skin/hair/eye pigmentation not specified Oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Skin/hair/eye pigmentation, variation in, 1 not specified Oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28260053G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001013.5, RCV000180482.2, RCV000312067.1,



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


[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 19384953OA-icon.png] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.


[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


[PMID 28242083] Association of five SNPs with human hair colour in the Polish population.