rs80338789

Orientation

minus

Stabilized

minus

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

Make rs80338789(A;A)

Make rs80338789(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63947091

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338789
dbSNP (classic)	rs80338789
ClinGen	rs80338789
ebi	rs80338789
HLI	rs80338789
Exac	rs80338789
Gnomad	rs80338789
Varsome	rs80338789
LitVar	rs80338789
Map	rs80338789
PheGenI	rs80338789
Biobank	rs80338789
1000 genomes	rs80338789
hgdp	rs80338789
ensembl	rs80338789
geneview	rs80338789
scholar	rs80338789
google	rs80338789
pharmgkb	rs80338789
gwascentral	rs80338789
openSNP	rs80338789
23andMe	rs80338789
SNPshot	rs80338789
SNPdbe	rs80338789
MSV3d	rs80338789
GWAS Ctlg	rs80338789

Max Magnitude

0

ClinVar
Risk	rs80338789(A;A)
Alt	rs80338789(A;A)
Reference	Rs80338789(G;G)
Significance	Pathogenic
Disease	Hypokalemic periodic paralysis 1 Hypokalemic periodic paralysis
Variation	info
Gene	SCN4A
CLNDBN	Hypokalemic periodic paralysis 1 Hypokalemic periodic paralysis, type 2
Reversed	1
HGVS	NC_000017.10:g.62024451C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020270.1, RCV000043510.5,

[PMID 16890191] Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.