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rs121918169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918169(C;C)
Make rs121918169(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27926169
GeneOCA2
is asnp
is mentioned by
dbSNPrs121918169
ebirs121918169
HLIrs121918169
Exacrs121918169
Varsomers121918169
Maprs121918169
PheGenIrs121918169
hapmaprs121918169
1000 genomesrs121918169
hgdprs121918169
ensemblrs121918169
gopubmedrs121918169
geneviewrs121918169
scholarrs121918169
googlers121918169
pharmgkbrs121918169
gwascentralrs121918169
openSNPrs121918169
23andMers121918169
23andMe allrs121918169
SNP Nexus

SNPshotrs121918169
SNPdbers121918169
MSV3drs121918169
GWAS Ctlgrs121918169
Max Magnitude0
OMIM611409
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918169(C;C)
Alt rs121918169(C;C)
Reference rs121918169(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.28171315C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001011.3,