Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909324(C;T)
Make rs121909324(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13255217
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121909324
ebirs121909324
HLIrs121909324
Exacrs121909324
Varsomers121909324
Maprs121909324
PheGenIrs121909324
hapmaprs121909324
1000 genomesrs121909324
hgdprs121909324
ensemblrs121909324
gopubmedrs121909324
geneviewrs121909324
scholarrs121909324
googlers121909324
pharmgkbrs121909324
gwascentralrs121909324
openSNPrs121909324
23andMers121909324
23andMe allrs121909324
SNP Nexus

SNPshotrs121909324
SNPdbers121909324
MSV3drs121909324
GWAS Ctlgrs121909324
Max Magnitude0
OMIM601011
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909324(T;T)
Alt rs121909324(T;T)
Reference rs121909324(C;C)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13366031G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009032.2,