Rs121918171

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918171(A;A)
Make rs121918171(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27989601
GeneOCA2
is asnp
is mentioned by
dbSNPrs121918171
Exacrs121918171
PheGenIrs121918171
nextbiors121918171
hapmaprs121918171
1000 genomesrs121918171
hgdprs121918171
ensemblrs121918171
gopubmedrs121918171
geneviewrs121918171
scholarrs121918171
googlers121918171
pharmgkbrs121918171
gwascentralrs121918171
openSNPrs121918171
23andMers121918171
23andMe allrs121918171
SNP Nexus

SNPshotrs121918171
SNPdbers121918171
MSV3drs121918171
OMIM611409
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918171(A;A)
Alt rs121918171(A;A)
Reference rs121918171(G;G)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28234747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001016.1,