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rs121908227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908227(G;G)
Make rs121908227(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13261495
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908227
ebirs121908227
HLIrs121908227
Exacrs121908227
Varsomers121908227
Maprs121908227
PheGenIrs121908227
hapmaprs121908227
1000 genomesrs121908227
hgdprs121908227
ensemblrs121908227
gopubmedrs121908227
geneviewrs121908227
scholarrs121908227
googlers121908227
pharmgkbrs121908227
gwascentralrs121908227
openSNPrs121908227
23andMers121908227
23andMe allrs121908227
SNP Nexus

SNPshotrs121908227
SNPdbers121908227
MSV3drs121908227
GWAS Ctlgrs121908227
Merged fromRs121909325
Max Magnitude0
OMIM601011
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121908227(G;G)
Alt rs121908227(G;G)
Reference Rs121908227(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.13372309A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009033.5,


[PMID 11723274] Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.


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