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rs397514536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514536(A;G)
Make rs397514536(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position4667467
GeneITPR1
is asnp
is mentioned by
dbSNPrs397514536
ebirs397514536
HLIrs397514536
Exacrs397514536
Varsomers397514536
Maprs397514536
PheGenIrs397514536
hapmaprs397514536
1000 genomesrs397514536
hgdprs397514536
ensemblrs397514536
gopubmedrs397514536
geneviewrs397514536
scholarrs397514536
googlers397514536
pharmgkbrs397514536
gwascentralrs397514536
openSNPrs397514536
23andMers397514536
23andMe allrs397514536
SNP Nexus

SNPshotrs397514536
SNPdbers397514536
MSV3drs397514536
GWAS Ctlgrs397514536
Max Magnitude0
ClinVar
Risk rs397514536(G;G)
Alt rs397514536(G;G)
Reference rs397514536(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 29
Variation info
Gene ITPR1
CLNDBN Spinocerebellar ataxia 29
Reversed 0
HGVS NC_000003.11:g.4709151A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032772.27,