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rs397514682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514682(G;T)
Make rs397514682(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position233335071
GeneSAG
is asnp
is mentioned by
dbSNPrs397514682
ebirs397514682
HLIrs397514682
Exacrs397514682
Varsomers397514682
Maprs397514682
PheGenIrs397514682
hapmaprs397514682
1000 genomesrs397514682
hgdprs397514682
ensemblrs397514682
gopubmedrs397514682
geneviewrs397514682
scholarrs397514682
googlers397514682
pharmgkbrs397514682
gwascentralrs397514682
openSNPrs397514682
23andMers397514682
23andMe allrs397514682
SNP Nexus

SNPshotrs397514682
SNPdbers397514682
MSV3drs397514682
GWAS Ctlgrs397514682
Max Magnitude0
ClinVar
Risk rs397514682(T;T)
Alt rs397514682(T;T)
Reference rs397514682(G;G)
Significance Pathogenic
Disease Oguchi's disease
Variation info
Gene SAG
CLNDBN Oguchi's disease
Reversed 0
HGVS NC_000002.11:g.234243717G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034824.18,