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rs121908233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908233(C;C)
Make rs121908233(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13257474
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908233
ebirs121908233
HLIrs121908233
Exacrs121908233
Varsomers121908233
Maprs121908233
PheGenIrs121908233
hapmaprs121908233
1000 genomesrs121908233
hgdprs121908233
ensemblrs121908233
gopubmedrs121908233
geneviewrs121908233
scholarrs121908233
googlers121908233
pharmgkbrs121908233
gwascentralrs121908233
openSNPrs121908233
23andMers121908233
23andMe allrs121908233
SNP Nexus

SNPshotrs121908233
SNPdbers121908233
MSV3drs121908233
GWAS Ctlgrs121908233
Merged fromRs121909317
Max Magnitude0
OMIM601011
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908233(C;C)
Alt rs121908233(C;C)
Reference rs121908233(T;T)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13368288A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009021.3,


[PMID 15173248OA-icon.png] Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.