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rs786200963

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200963(A;A)
Make rs786200963(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position13371683
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs786200963
ebirs786200963
HLIrs786200963
Exacrs786200963
Varsomers786200963
Maprs786200963
PheGenIrs786200963
hapmaprs786200963
1000 genomesrs786200963
hgdprs786200963
ensemblrs786200963
gopubmedrs786200963
geneviewrs786200963
scholarrs786200963
googlers786200963
pharmgkbrs786200963
gwascentralrs786200963
openSNPrs786200963
23andMers786200963
23andMe allrs786200963
SNP Nexus

SNPshotrs786200963
SNPdbers786200963
MSV3drs786200963
GWAS Ctlgrs786200963
Max Magnitude0
ClinVar
Risk rs786200963(A;A)
Alt rs786200963(A;A)
Reference rs786200963(G;G)
Significance Probable-Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13482497C>T
CLNSRC
CLNACC RCV000169641.1,