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rs121908215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908215(A;A)
Make rs121908215(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13359707
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908215
ebirs121908215
HLIrs121908215
Exacrs121908215
Varsomers121908215
Maprs121908215
PheGenIrs121908215
hapmaprs121908215
1000 genomesrs121908215
hgdprs121908215
ensemblrs121908215
gopubmedrs121908215
geneviewrs121908215
scholarrs121908215
googlers121908215
pharmgkbrs121908215
gwascentralrs121908215
openSNPrs121908215
23andMers121908215
23andMe allrs121908215
SNP Nexus

SNPshotrs121908215
SNPdbers121908215
MSV3drs121908215
GWAS Ctlgrs121908215
Merged fromRs121909314
Max Magnitude0
OMIM601011
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908215(A;A)
Alt rs121908215(A;A)
Reference rs121908215(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 6 Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Spinocerebellar ataxia 6 Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13470521C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009018.4, RCV000009019.2,


[PMID 9345107OA-icon.png] Progressive ataxia due to a missense mutation in a calcium-channel gene.


[PMID 14718690] Clinical spectrum of episodic ataxia type 2.