rs121908218

Orientation

minus

Stabilized

minus

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

Make rs121908218(C;G)

Make rs121908218(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

13303576

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908218
dbSNP (classic)	rs121908218
ClinGen	rs121908218
ebi	rs121908218
HLI	rs121908218
Exac	rs121908218
Gnomad	rs121908218
Varsome	rs121908218
LitVar	rs121908218
Map	rs121908218
PheGenI	rs121908218
Biobank	rs121908218
1000 genomes	rs121908218
hgdp	rs121908218
ensembl	rs121908218
geneview	rs121908218
scholar	rs121908218
google	rs121908218
pharmgkb	rs121908218
gwascentral	rs121908218
openSNP	rs121908218
23andMe	rs121908218
SNPshot	rs121908218
SNPdbe	rs121908218
MSV3d	rs121908218
GWAS Ctlg	rs121908218

Merged from

Rs121909315

Max Magnitude

0

ClinVar
Risk	rs121908218(A;A) rs121908218(G;G)
Alt	rs121908218(A;A) rs121908218(G;G)
Reference	Rs121908218(C;C)
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.13414390G>C; NC_000019.9:g.13414390G>T
CLNSRC	UniProtKB (variants) OMIM Allelic Variant
CLNACC	RCV000059293.1, RCV000009020.5,

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