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rs587776692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776692(-;-)
Make rs587776692(-;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position13283295
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs587776692
ebirs587776692
HLIrs587776692
Exacrs587776692
Varsomers587776692
Maprs587776692
PheGenIrs587776692
hapmaprs587776692
1000 genomesrs587776692
hgdprs587776692
ensemblrs587776692
gopubmedrs587776692
geneviewrs587776692
scholarrs587776692
googlers587776692
pharmgkbrs587776692
gwascentralrs587776692
openSNPrs587776692
23andMers587776692
23andMe allrs587776692
SNP Nexus

SNPshotrs587776692
SNPdbers587776692
MSV3drs587776692
GWAS Ctlgrs587776692
Max Magnitude0
ClinVar
Risk rs587776692(GT,T;GT,T)
Alt rs587776692(GT,T;GT,T)
Reference rs587776692(CT;CT)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13394109delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009013.2,