rs121908233

Orientation

minus

Stabilized

minus

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

Make rs121908233(C;C)

Make rs121908233(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13257474

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908233
dbSNP (classic)	rs121908233
ClinGen	rs121908233
ebi	rs121908233
HLI	rs121908233
Exac	rs121908233
Gnomad	rs121908233
Varsome	rs121908233
LitVar	rs121908233
Map	rs121908233
PheGenI	rs121908233
Biobank	rs121908233
1000 genomes	rs121908233
hgdp	rs121908233
ensembl	rs121908233
geneview	rs121908233
scholar	rs121908233
google	rs121908233
pharmgkb	rs121908233
gwascentral	rs121908233
openSNP	rs121908233
23andMe	rs121908233
SNPshot	rs121908233
SNPdbe	rs121908233
MSV3d	rs121908233
GWAS Ctlg	rs121908233

Merged from

Rs121909317

Max Magnitude

0

OMIM	601011
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121908233(C;C)
Alt	rs121908233(C;C)
Reference	Rs121908233(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.13368288A>G
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009021.4,

[PMID 15173248] Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.