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rs587776693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776693(C;T)
Make rs587776693(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position13275849
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs587776693
ebirs587776693
HLIrs587776693
Exacrs587776693
Varsomers587776693
Maprs587776693
PheGenIrs587776693
hapmaprs587776693
1000 genomesrs587776693
hgdprs587776693
ensemblrs587776693
gopubmedrs587776693
geneviewrs587776693
scholarrs587776693
googlers587776693
pharmgkbrs587776693
gwascentralrs587776693
openSNPrs587776693
23andMers587776693
23andMe allrs587776693
SNP Nexus

SNPshotrs587776693
SNPdbers587776693
MSV3drs587776693
GWAS Ctlgrs587776693
Max Magnitude0
ClinVar
Risk rs587776693(C,T;C,T)
Alt rs587776693(C,T;C,T)
Reference rs587776693(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.13386663C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009014.2,