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rs267606696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606696(C;T)
Make rs267606696(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13230158
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs267606696
ebirs267606696
HLIrs267606696
Exacrs267606696
Varsomers267606696
Maprs267606696
PheGenIrs267606696
hapmaprs267606696
1000 genomesrs267606696
hgdprs267606696
ensemblrs267606696
gopubmedrs267606696
geneviewrs267606696
scholarrs267606696
googlers267606696
pharmgkbrs267606696
gwascentralrs267606696
openSNPrs267606696
23andMers267606696
23andMe allrs267606696
SNP Nexus

SNPshotrs267606696
SNPdbers267606696
MSV3drs267606696
GWAS Ctlgrs267606696
Max Magnitude0
ClinVar
Risk rs267606696(A,G,T;A,G,T)
Alt rs267606696(A,G,T;A,G,T)
Reference rs267606696(C;C)
Significance Pathogenic
Disease Episodic ataxia
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia, type 2, and epilepsy
Reversed 1
HGVS NC_000019.9:g.13340972G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009034.2,