rs121908236

Orientation

minus

Stabilized

minus

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

Make rs121908236(A;A)

Make rs121908236(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13359724

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908236
dbSNP (classic)	rs121908236
ClinGen	rs121908236
ebi	rs121908236
HLI	rs121908236
Exac	rs121908236
Gnomad	rs121908236
Varsome	rs121908236
LitVar	rs121908236
Map	rs121908236
PheGenI	rs121908236
Biobank	rs121908236
1000 genomes	rs121908236
hgdp	rs121908236
ensembl	rs121908236
geneview	rs121908236
scholar	rs121908236
google	rs121908236
pharmgkb	rs121908236
gwascentral	rs121908236
openSNP	rs121908236
23andMe	rs121908236
SNPshot	rs121908236
SNPdbe	rs121908236
MSV3d	rs121908236
GWAS Ctlg	rs121908236

Merged from

Rs121909327

Max Magnitude

0

OMIM	601011
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121908236(A;A)
Alt	rs121908236(A;A)
Reference	Rs121908236(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.13470538C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009037.5,

[PMID 14718690] Clinical spectrum of episodic ataxia type 2.