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rs786200962

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786200962(-;-)
Make rs786200962(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position13298768
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs786200962
ebirs786200962
HLIrs786200962
Exacrs786200962
Varsomers786200962
Maprs786200962
PheGenIrs786200962
hapmaprs786200962
1000 genomesrs786200962
hgdprs786200962
ensemblrs786200962
gopubmedrs786200962
geneviewrs786200962
scholarrs786200962
googlers786200962
pharmgkbrs786200962
gwascentralrs786200962
openSNPrs786200962
23andMers786200962
23andMe allrs786200962
SNP Nexus

SNPshotrs786200962
SNPdbers786200962
MSV3drs786200962
GWAS Ctlgrs786200962
Max Magnitude0
ClinVar
Risk rs786200962(;)
Alt rs786200962(;)
Reference rs786200962(T;T)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13409582delA
CLNSRC
CLNACC RCV000169640.1,