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rs587776694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776694(-;-)
Make rs587776694(-;C)
Make rs587776694(C;C)
ReferenceGRCh38 38.1/142
Chromosome19
Position13298820
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs587776694
ebirs587776694
HLIrs587776694
Exacrs587776694
Varsomers587776694
Maprs587776694
PheGenIrs587776694
hapmaprs587776694
1000 genomesrs587776694
hgdprs587776694
ensemblrs587776694
gopubmedrs587776694
geneviewrs587776694
scholarrs587776694
googlers587776694
pharmgkbrs587776694
gwascentralrs587776694
openSNPrs587776694
23andMers587776694
23andMe allrs587776694
SNP Nexus

SNPshotrs587776694
SNPdbers587776694
MSV3drs587776694
GWAS Ctlgrs587776694
Max Magnitude0
ClinVar
Risk rs587776694(C;C)
Alt rs587776694(C;C)
Reference rs587776694(;)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 0
HGVS NC_000019.9:g.13409634dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009024.2,