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rs121908236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908236(A;A)
Make rs121908236(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13359724
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908236
ebirs121908236
HLIrs121908236
Exacrs121908236
Varsomers121908236
Maprs121908236
PheGenIrs121908236
hapmaprs121908236
1000 genomesrs121908236
hgdprs121908236
ensemblrs121908236
gopubmedrs121908236
geneviewrs121908236
scholarrs121908236
googlers121908236
pharmgkbrs121908236
gwascentralrs121908236
openSNPrs121908236
23andMers121908236
23andMe allrs121908236
SNP Nexus

SNPshotrs121908236
SNPdbers121908236
MSV3drs121908236
GWAS Ctlgrs121908236
Merged fromRs121909327
Max Magnitude0
OMIM601011
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121908236(A;A)
Alt rs121908236(A;A)
Reference rs121908236(G;G)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13470538C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009037.3,


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