rs121908212

Orientation

minus

Stabilized

minus

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

Make rs121908212(C;T)

Make rs121908212(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13303877

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908212
dbSNP (classic)	rs121908212
ClinGen	rs121908212
ebi	rs121908212
HLI	rs121908212
Exac	rs121908212
Gnomad	rs121908212
Varsome	rs121908212
LitVar	rs121908212
Map	rs121908212
PheGenI	rs121908212
Biobank	rs121908212
1000 genomes	rs121908212
hgdp	rs121908212
ensembl	rs121908212
geneview	rs121908212
scholar	rs121908212
google	rs121908212
pharmgkb	rs121908212
gwascentral	rs121908212
openSNP	rs121908212
23andMe	rs121908212
SNPshot	rs121908212
SNPdbe	rs121908212
MSV3d	rs121908212
GWAS Ctlg	rs121908212

Merged from

Rs121909311

Max Magnitude

0

OMIM	601011
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908212(T;T)
Alt	rs121908212(T;T)
Reference	Rs121908212(C;C)
Significance	Pathogenic
Disease	Familial hemiplegic migraine type 1 Migraine
Variation	info
Gene	CACNA1A
CLNDBN	Familial hemiplegic migraine type 1 Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
Reversed	1
HGVS	NC_000019.9:g.13414691G>A
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009009.8, RCV000009010.5,

[PMID 11439943] The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

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