rs121908215

Orientation

minus

Stabilized

minus

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

Make rs121908215(A;A)

Make rs121908215(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13359707

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908215
dbSNP (classic)	rs121908215
ClinGen	rs121908215
ebi	rs121908215
HLI	rs121908215
Exac	rs121908215
Gnomad	rs121908215
Varsome	rs121908215
LitVar	rs121908215
Map	rs121908215
PheGenI	rs121908215
Biobank	rs121908215
1000 genomes	rs121908215
hgdp	rs121908215
ensembl	rs121908215
geneview	rs121908215
scholar	rs121908215
google	rs121908215
pharmgkb	rs121908215
gwascentral	rs121908215
openSNP	rs121908215
23andMe	rs121908215
SNPshot	rs121908215
SNPdbe	rs121908215
MSV3d	rs121908215
GWAS Ctlg	rs121908215

Merged from

Rs121909314

Max Magnitude

0

OMIM	601011
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908215(A;A)
Alt	rs121908215(A;A)
Reference	Rs121908215(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 6 Episodic ataxia type 2
Variation	info
Gene	CACNA1A
CLNDBN	Spinocerebellar ataxia 6 Episodic ataxia type 2
Reversed	1
HGVS	NC_000019.9:g.13470521C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009018.6, RCV000009019.4,

[PMID 9345107] Progressive ataxia due to a missense mutation in a calcium-channel gene.

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