rs121909324

Orientation

minus

Stabilized

minus

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

Make rs121909324(C;T)

Make rs121909324(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13255217

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121909324
dbSNP (classic)	rs121909324
ClinGen	rs121909324
ebi	rs121909324
HLI	rs121909324
Exac	rs121909324
Gnomad	rs121909324
Varsome	rs121909324
LitVar	rs121909324
Map	rs121909324
PheGenI	rs121909324
Biobank	rs121909324
1000 genomes	rs121909324
hgdp	rs121909324
ensembl	rs121909324
geneview	rs121909324
scholar	rs121909324
google	rs121909324
pharmgkb	rs121909324
gwascentral	rs121909324
openSNP	rs121909324
23andMe	rs121909324
SNPshot	rs121909324
SNPdbe	rs121909324
MSV3d	rs121909324
GWAS Ctlg	rs121909324

Max Magnitude

0

OMIM	601011
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121909324(T;T)
Alt	rs121909324(T;T)
Reference	Rs121909324(C;C)
Significance	Pathogenic
Disease	Episodic ataxia type 2
Variation	info
Gene	CACNA1A
CLNDBN	Episodic ataxia type 2
Reversed	1
HGVS	NC_000019.9:g.13366031G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009032.3,