rs121908216

Orientation

minus

Stabilized

minus

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

Make rs121908216(A;A)

Make rs121908216(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13235702

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908216
dbSNP (classic)	rs121908216
ClinGen	rs121908216
ebi	rs121908216
HLI	rs121908216
Exac	rs121908216
Gnomad	rs121908216
Varsome	rs121908216
LitVar	rs121908216
Map	rs121908216
PheGenI	rs121908216
Biobank	rs121908216
1000 genomes	rs121908216
hgdp	rs121908216
ensembl	rs121908216
geneview	rs121908216
scholar	rs121908216
google	rs121908216
pharmgkb	rs121908216
gwascentral	rs121908216
openSNP	rs121908216
23andMe	rs121908216
SNPshot	rs121908216
SNPdbe	rs121908216
MSV3d	rs121908216
GWAS Ctlg	rs121908216

Merged from

Rs121909316

Max Magnitude

0

OMIM	601011
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908216(A;A)
Alt	rs121908216(A;A)
Reference	Rs121908216(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.13346516C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009017.5,

[PMID 10987655] Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.