rs121908226

Orientation

minus

Stabilized

minus

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

Make rs121908226(A;A)

Make rs121908226(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13231847

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908226
dbSNP (classic)	rs121908226
ClinGen	rs121908226
ebi	rs121908226
HLI	rs121908226
Exac	rs121908226
Gnomad	rs121908226
Varsome	rs121908226
LitVar	rs121908226
Map	rs121908226
PheGenI	rs121908226
Biobank	rs121908226
1000 genomes	rs121908226
hgdp	rs121908226
ensembl	rs121908226
geneview	rs121908226
scholar	rs121908226
google	rs121908226
pharmgkb	rs121908226
gwascentral	rs121908226
openSNP	rs121908226
23andMe	rs121908226
SNPshot	rs121908226
SNPdbe	rs121908226
MSV3d	rs121908226
GWAS Ctlg	rs121908226

Merged from

Rs121909319

Max Magnitude

0

OMIM	601011
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121908226(A;A)
Alt	rs121908226(A;A)
Reference	Rs121908226(G;G)
Significance	Pathogenic
Disease	Episodic ataxia type 2
Variation	info
Gene	CACNA1A
CLNDBN	Episodic ataxia type 2
Reversed	1
HGVS	NC_000019.9:g.13342661C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009023.5,

[PMID 11176968] Missense CACNA1A mutation causing episodic ataxia type 2.