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rs587776695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs587776695(-;-)
Make rs587776695(-;C)
ReferenceGRCh38 38.1/142
Chromosome19
Position13253015
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs587776695
ebirs587776695
HLIrs587776695
Exacrs587776695
Varsomers587776695
Maprs587776695
PheGenIrs587776695
hapmaprs587776695
1000 genomesrs587776695
hgdprs587776695
ensemblrs587776695
gopubmedrs587776695
geneviewrs587776695
scholarrs587776695
googlers587776695
pharmgkbrs587776695
gwascentralrs587776695
openSNPrs587776695
23andMers587776695
23andMe allrs587776695
SNP Nexus

SNPshotrs587776695
SNPdbers587776695
MSV3drs587776695
GWAS Ctlgrs587776695
Max Magnitude0
ClinVar
Risk rs587776695(CA,A;CA,A)
Alt rs587776695(CA,A;CA,A)
Reference rs587776695(GA;GA)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13363829delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009025.2,