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rs121909323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909323(C;T)
Make rs121909323(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13277122
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121909323
ebirs121909323
HLIrs121909323
Exacrs121909323
Varsomers121909323
Maprs121909323
PheGenIrs121909323
hapmaprs121909323
1000 genomesrs121909323
hgdprs121909323
ensemblrs121909323
gopubmedrs121909323
geneviewrs121909323
scholarrs121909323
googlers121909323
pharmgkbrs121909323
gwascentralrs121909323
openSNPrs121909323
23andMers121909323
23andMe allrs121909323
SNP Nexus

SNPshotrs121909323
SNPdbers121909323
MSV3drs121909323
GWAS Ctlgrs121909323
Max Magnitude0
OMIM601011
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121909323(T;T)
Alt rs121909323(T;T)
Reference rs121909323(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.13387936G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009031.2,