rs121908227

Orientation

minus

Stabilized

minus

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

Make rs121908227(G;G)

Make rs121908227(G;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13261495

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908227
dbSNP (classic)	rs121908227
ClinGen	rs121908227
ebi	rs121908227
HLI	rs121908227
Exac	rs121908227
Gnomad	rs121908227
Varsome	rs121908227
LitVar	rs121908227
Map	rs121908227
PheGenI	rs121908227
Biobank	rs121908227
1000 genomes	rs121908227
hgdp	rs121908227
ensembl	rs121908227
geneview	rs121908227
scholar	rs121908227
google	rs121908227
pharmgkb	rs121908227
gwascentral	rs121908227
openSNP	rs121908227
23andMe	rs121908227
SNPshot	rs121908227
SNPdbe	rs121908227
MSV3d	rs121908227
GWAS Ctlg	rs121908227

Merged from

Rs121909325

Max Magnitude

0

OMIM	601011
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121908227(G;G)
Alt	rs121908227(G;G)
Reference	Rs121908227(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.13372309A>C
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009033.5,

[PMID 11723274] Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

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