rs267606696

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs267606696(C;T)

Make rs267606696(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13230158

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs267606696
dbSNP (classic)	rs267606696
ClinGen	rs267606696
ebi	rs267606696
HLI	rs267606696
Exac	rs267606696
Gnomad	rs267606696
Varsome	rs267606696
LitVar	rs267606696
Map	rs267606696
PheGenI	rs267606696
Biobank	rs267606696
1000 genomes	rs267606696
hgdp	rs267606696
ensembl	rs267606696
geneview	rs267606696
scholar	rs267606696
google	rs267606696
pharmgkb	rs267606696
gwascentral	rs267606696
openSNP	rs267606696
23andMe	rs267606696
SNPshot	rs267606696
SNPdbe	rs267606696
MSV3d	rs267606696
GWAS Ctlg	rs267606696

Max Magnitude

0

ClinVar
Risk	rs267606696(A;A) rs267606696(G;G) rs267606696(T;T)
Alt	rs267606696(A;A) rs267606696(G;G) rs267606696(T;T)
Reference	Rs267606696(C;C)
Significance	Pathogenic
Disease	Episodic ataxia
Variation	info
Gene	CACNA1A
CLNDBN	Episodic ataxia, type 2, and epilepsy
Reversed	1
HGVS	NC_000019.9:g.13340972G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009034.3,