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rs121908247

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908247(A;A)
Make rs121908247(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position13235693
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908247
ebirs121908247
HLIrs121908247
Exacrs121908247
Varsomers121908247
Maprs121908247
PheGenIrs121908247
hapmaprs121908247
1000 genomesrs121908247
hgdprs121908247
ensemblrs121908247
gopubmedrs121908247
geneviewrs121908247
scholarrs121908247
googlers121908247
pharmgkbrs121908247
gwascentralrs121908247
openSNPrs121908247
23andMers121908247
23andMe allrs121908247
SNP Nexus

SNPshotrs121908247
SNPdbers121908247
MSV3drs121908247
GWAS Ctlgrs121908247
Max Magnitude0
ClinVar
Risk rs121908247(A;A)
Alt rs121908247(A;A)
Reference rs121908247(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 6 Chronic and progressive ataxia
Variation info
Gene CACNA1A
CLNDBN Spinocerebellar ataxia 6 Chronic and progressive ataxia
Reversed 1
HGVS NC_000019.9:g.13346507C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059302.1, RCV000157057.2,