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rs144272231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144272231(C;T)
Make rs144272231(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position43576710
GeneANO10
is asnp
is mentioned by
dbSNPrs144272231
dbSNP (classic)rs144272231
ClinGenrs144272231
ebirs144272231
HLIrs144272231
Exacrs144272231
Gnomadrs144272231
Varsomers144272231
LitVarrs144272231
Maprs144272231
PheGenIrs144272231
Biobankrs144272231
1000 genomesrs144272231
hgdprs144272231
ensemblrs144272231
geneviewrs144272231
scholarrs144272231
googlers144272231
pharmgkbrs144272231
gwascentralrs144272231
openSNPrs144272231
23andMers144272231
SNPshotrs144272231
SNPdbers144272231
MSV3drs144272231
GWAS Ctlgrs144272231
Max Magnitude0
ClinVar
Risk rs144272231(A;A) rs144272231(T;T)
Alt rs144272231(A;A) rs144272231(T;T)
Reference Rs144272231(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene ANO10
CLNDBN Spinocerebellar ataxia, autosomal recessive 10
Reversed 0
HGVS NC_000003.11:g.43618202C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149439.4,