rs80338778

Orientation

minus

Stabilized

minus

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

Make rs80338778(C;G)

Make rs80338778(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201077916

Gene

CACNA1S

is a	snp
is	mentioned by
dbSNP	rs80338778
dbSNP (classic)	rs80338778
ClinGen	rs80338778
ebi	rs80338778
HLI	rs80338778
Exac	rs80338778
Gnomad	rs80338778
Varsome	rs80338778
LitVar	rs80338778
Map	rs80338778
PheGenI	rs80338778
Biobank	rs80338778
1000 genomes	rs80338778
hgdp	rs80338778
ensembl	rs80338778
geneview	rs80338778
scholar	rs80338778
google	rs80338778
pharmgkb	rs80338778
gwascentral	rs80338778
openSNP	rs80338778
23andMe	rs80338778
SNPshot	rs80338778
SNPdbe	rs80338778
MSV3d	rs80338778
GWAS Ctlg	rs80338778

Max Magnitude

0

ClinVar
Risk	rs80338778(G;G) rs80338778(T;T)
Alt	rs80338778(G;G) rs80338778(T;T)
Reference	Rs80338778(C;C)
Significance	Pathogenic
Disease	Hypokalemic periodic paralysis 1
Variation	info
Gene	CACNA1S
CLNDBN	Hypokalemic periodic paralysis 1
Reversed	1
HGVS	NC_000001.10:g.201047044G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020093.1,

[PMID 7987325] A calcium channel mutation causing hypokalemic periodic paralysis.

[PMID 11353725] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

[PMID 15726306] Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.