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rs397514535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514535(A;A)
Make rs397514535(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position4706193
GeneITPR1
is asnp
is mentioned by
dbSNPrs397514535
ebirs397514535
HLIrs397514535
Exacrs397514535
Varsomers397514535
Maprs397514535
PheGenIrs397514535
hapmaprs397514535
1000 genomesrs397514535
hgdprs397514535
ensemblrs397514535
gopubmedrs397514535
geneviewrs397514535
scholarrs397514535
googlers397514535
pharmgkbrs397514535
gwascentralrs397514535
openSNPrs397514535
23andMers397514535
23andMe allrs397514535
SNP Nexus

SNPshotrs397514535
SNPdbers397514535
MSV3drs397514535
GWAS Ctlgrs397514535
Max Magnitude0
ClinVar
Risk rs397514535(A;A)
Alt rs397514535(A;A)
Reference rs397514535(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 29
Variation info
Gene ITPR1
CLNDBN Spinocerebellar ataxia 29
Reversed 0
HGVS NC_000003.11:g.4747877G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032771.26,