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rs121918167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918167(C;T)
Make rs121918167(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position27871170
GeneOCA2
is asnp
is mentioned by
dbSNPrs121918167
ebirs121918167
HLIrs121918167
Exacrs121918167
Varsomers121918167
Maprs121918167
PheGenIrs121918167
hapmaprs121918167
1000 genomesrs121918167
hgdprs121918167
ensemblrs121918167
gopubmedrs121918167
geneviewrs121918167
scholarrs121918167
googlers121918167
pharmgkbrs121918167
gwascentralrs121918167
openSNPrs121918167
23andMers121918167
23andMe allrs121918167
SNP Nexus

SNPshotrs121918167
SNPdbers121918167
MSV3drs121918167
GWAS Ctlgrs121918167
Max Magnitude0
OMIM611409
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918167(T;T)
Alt rs121918167(T;T)
Reference rs121918167(C;C)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28116316G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001007.4,