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rs121908228

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908228(C;T)
Make rs121908228(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position13365344
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908228
ebirs121908228
HLIrs121908228
Exacrs121908228
Varsomers121908228
Maprs121908228
PheGenIrs121908228
hapmaprs121908228
1000 genomesrs121908228
hgdprs121908228
ensemblrs121908228
gopubmedrs121908228
geneviewrs121908228
scholarrs121908228
googlers121908228
pharmgkbrs121908228
gwascentralrs121908228
openSNPrs121908228
23andMers121908228
23andMe allrs121908228
SNP Nexus

SNPshotrs121908228
SNPdbers121908228
MSV3drs121908228
GWAS Ctlgrs121908228
Max Magnitude0
ClinVar
Risk rs121908228(T;T)
Alt rs121908228(T;T)
Reference rs121908228(C;C)
Significance Probable-Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13476158G>A
CLNSRC University Hospital of Geneva UniProtKB (variants)
CLNACC RCV000059312.2,