rs80338779

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	possibility of Hypokalemic periodic paralysis

Make rs80338779(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201066283

Gene

CACNA1S

is a	snp
is	mentioned by
dbSNP	rs80338779
dbSNP (classic)	rs80338779
ClinGen	rs80338779
ebi	rs80338779
HLI	rs80338779
Exac	rs80338779
Gnomad	rs80338779
Varsome	rs80338779
LitVar	rs80338779
Map	rs80338779
PheGenI	rs80338779
Biobank	rs80338779
1000 genomes	rs80338779
hgdp	rs80338779
ensembl	rs80338779
geneview	rs80338779
scholar	rs80338779
google	rs80338779
pharmgkb	rs80338779
gwascentral	rs80338779
openSNP	rs80338779
23andMe	rs80338779
SNPshot	rs80338779
SNPdbe	rs80338779
MSV3d	rs80338779
GWAS Ctlg	rs80338779

Max Magnitude

3

OMIM	114208
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80338779(T;T)
Alt	rs80338779(T;T)
Reference	Rs80338779(G;G)
Significance	Pathogenic
Disease	Hypokalemic periodic paralysis 1 not specified
Variation	info
Gene	CACNA1S
CLNDBN	Hypokalemic periodic paralysis 1 not specified
Reversed	1
HGVS	NC_000001.10:g.201035411C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019197.24, RCV000455686.1,

[PMID 18835861] Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.