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Rs1800401

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Orientationplus
is asnp
is mentioned by
dbSNPrs1800401
PheGenIrs1800401
nextbiors1800401
hapmaprs1800401
1000 genomesrs1800401
hgdprs1800401
ensemblrs1800401
gopubmedrs1800401
geneviewrs1800401
scholarrs1800401
googlers1800401
pharmgkbrs1800401
gwascentralrs1800401
openSNPrs1800401
23andMers1800401
23andMe allrs1800401
SNP Nexus

SNPshotrs1800401
SNPdbers1800401
MSV3drs1800401
GeneOCA2
Chromosome15
Orientationplus
GMAF0.06336
Position28014907
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 blue/gray eyes possible
(C;T) brown/black eyes more likely
(T;T) brown/black eyes more likely
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 5
Disease Skin/hair/eye pigmentation
ClinVar info
Gene OCA2
CLNDBN Skin/hair/eye pigmentation, variation in, 1
Reversed 1
CLNHGVS NC_000015.9:g.28260053G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001013.1



[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.


GET Evidence
OCA2-R305W
aa_change Arg305Trp
aa_change_short R305W
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0815207
summary This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).