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rs397514681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514681(C;T)
Make rs397514681(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233335029
GeneSAG
is asnp
is mentioned by
dbSNPrs397514681
ebirs397514681
HLIrs397514681
Exacrs397514681
Varsomers397514681
Maprs397514681
PheGenIrs397514681
hapmaprs397514681
1000 genomesrs397514681
hgdprs397514681
ensemblrs397514681
gopubmedrs397514681
geneviewrs397514681
scholarrs397514681
googlers397514681
pharmgkbrs397514681
gwascentralrs397514681
openSNPrs397514681
23andMers397514681
23andMe allrs397514681
SNP Nexus

SNPshotrs397514681
SNPdbers397514681
MSV3drs397514681
GWAS Ctlgrs397514681
Max Magnitude0
ClinVar
Risk rs397514681(G,T;G,T)
Alt rs397514681(G,T;G,T)
Reference rs397514681(C;C)
Significance Pathogenic
Disease Oguchi's disease
Variation info
Gene SAG
CLNDBN Oguchi's disease
Reversed 0
HGVS NC_000002.11:g.234243675C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034823.18,