rs121908219

Orientation

minus

Stabilized

minus

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

Make rs121908219(A;G)

Make rs121908219(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13261552

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908219
dbSNP (classic)	rs121908219
ClinGen	rs121908219
ebi	rs121908219
HLI	rs121908219
Exac	rs121908219
Gnomad	rs121908219
Varsome	rs121908219
LitVar	rs121908219
Map	rs121908219
PheGenI	rs121908219
Biobank	rs121908219
1000 genomes	rs121908219
hgdp	rs121908219
ensembl	rs121908219
geneview	rs121908219
scholar	rs121908219
google	rs121908219
pharmgkb	rs121908219
gwascentral	rs121908219
openSNP	rs121908219
23andMe	rs121908219
SNPshot	rs121908219
SNPdbe	rs121908219
MSV3d	rs121908219
GWAS Ctlg	rs121908219

Merged from

Rs121909318

Max Magnitude

0

OMIM	601011
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908219(G;G)
Alt	rs121908219(G;G)
Reference	Rs121908219(A;A)
Significance	Pathogenic
Disease	Familial hemiplegic migraine type 1
Variation	info
Gene	CACNA1A
CLNDBN	Familial hemiplegic migraine type 1
Reversed	1
HGVS	NC_000019.9:g.13372366T>C
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000009022.6,

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