rs121909323

Orientation

minus

Stabilized

minus

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

Make rs121909323(C;T)

Make rs121909323(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13277122

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121909323
dbSNP (classic)	rs121909323
ClinGen	rs121909323
ebi	rs121909323
HLI	rs121909323
Exac	rs121909323
Gnomad	rs121909323
Varsome	rs121909323
LitVar	rs121909323
Map	rs121909323
PheGenI	rs121909323
Biobank	rs121909323
1000 genomes	rs121909323
hgdp	rs121909323
ensembl	rs121909323
geneview	rs121909323
scholar	rs121909323
google	rs121909323
pharmgkb	rs121909323
gwascentral	rs121909323
openSNP	rs121909323
23andMe	rs121909323
SNPshot	rs121909323
SNPdbe	rs121909323
MSV3d	rs121909323
GWAS Ctlg	rs121909323

Max Magnitude

0

OMIM	601011
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121909323(T;T)
Alt	rs121909323(T;T)
Reference	Rs121909323(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.13387936G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009031.3,