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rs397514619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514619(A;A)
Make rs397514619(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153565081
GeneATP2B3
is asnp
is mentioned by
dbSNPrs397514619
ebirs397514619
HLIrs397514619
Exacrs397514619
Varsomers397514619
Maprs397514619
PheGenIrs397514619
hapmaprs397514619
1000 genomesrs397514619
hgdprs397514619
ensemblrs397514619
gopubmedrs397514619
geneviewrs397514619
scholarrs397514619
googlers397514619
pharmgkbrs397514619
gwascentralrs397514619
openSNPrs397514619
23andMers397514619
23andMe allrs397514619
SNP Nexus

SNPshotrs397514619
SNPdbers397514619
MSV3drs397514619
GWAS Ctlgrs397514619
Max Magnitude0
ClinVar
Risk rs397514619(A;A)
Alt rs397514619(A;A)
Reference rs397514619(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene ATP2B3
CLNDBN Spinocerebellar ataxia, X-linked 1
Reversed 0
HGVS NC_000023.10:g.152830539G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033061.23,