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rs121908226

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908226(A;A)
Make rs121908226(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13231847
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908226
ClinGenrs121908226
ebirs121908226
HLIrs121908226
Exacrs121908226
Varsomers121908226
Maprs121908226
PheGenIrs121908226
hapmaprs121908226
1000 genomesrs121908226
hgdprs121908226
ensemblrs121908226
gopubmedrs121908226
geneviewrs121908226
scholarrs121908226
googlers121908226
pharmgkbrs121908226
gwascentralrs121908226
openSNPrs121908226
23andMers121908226
23andMe allrs121908226
SNP Nexus

SNPshotrs121908226
SNPdbers121908226
MSV3drs121908226
GWAS Ctlgrs121908226
Merged fromRs121909319
Max Magnitude0
OMIM601011
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908226(A;A)
Alt rs121908226(A;A)
Reference Rs121908226(G;G)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13342661C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009023.4,


[PMID 11176968] Missense CACNA1A mutation causing episodic ataxia type 2.