rs80338790

Orientation

minus

Stabilized

minus

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

Make rs80338790(C;C)

Make rs80338790(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941814

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338790
dbSNP (classic)	rs80338790
ClinGen	rs80338790
ebi	rs80338790
HLI	rs80338790
Exac	rs80338790
Gnomad	rs80338790
Varsome	rs80338790
LitVar	rs80338790
Map	rs80338790
PheGenI	rs80338790
Biobank	rs80338790
1000 genomes	rs80338790
hgdp	rs80338790
ensembl	rs80338790
geneview	rs80338790
scholar	rs80338790
google	rs80338790
pharmgkb	rs80338790
gwascentral	rs80338790
openSNP	rs80338790
23andMe	rs80338790
SNPshot	rs80338790
SNPdbe	rs80338790
MSV3d	rs80338790
GWAS Ctlg	rs80338790

Max Magnitude

0

ClinVar
Risk	rs80338790(C;C)
Alt	rs80338790(C;C)
Reference	Rs80338790(T;T)
Significance	Pathogenic
Disease	Hyperkalemic Periodic Paralysis Type 1
Variation	info
Gene	SCN4A
CLNDBN	Hyperkalemic Periodic Paralysis Type 1
Reversed	1
HGVS	NC_000017.10:g.62019174A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020275.2,