rs80338958

Orientation

minus

Stabilized

minus

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

Make rs80338958(A;A)

Make rs80338958(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63945614

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338958
dbSNP (classic)	rs80338958
ClinGen	rs80338958
ebi	rs80338958
HLI	rs80338958
Exac	rs80338958
Gnomad	rs80338958
Varsome	rs80338958
LitVar	rs80338958
Map	rs80338958
PheGenI	rs80338958
Biobank	rs80338958
1000 genomes	rs80338958
hgdp	rs80338958
ensembl	rs80338958
geneview	rs80338958
scholar	rs80338958
google	rs80338958
pharmgkb	rs80338958
gwascentral	rs80338958
openSNP	rs80338958
23andMe	rs80338958
SNPshot	rs80338958
SNPdbe	rs80338958
MSV3d	rs80338958
GWAS Ctlg	rs80338958

Max Magnitude

0

OMIM	603967
Desc
Variant	0005
Related	also

ClinVar
Risk	rs80338958(A;A) rs80338958(T;T)
Alt	rs80338958(A;A) rs80338958(T;T)
Reference	Rs80338958(G;G)
Significance	Pathogenic
Disease	Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Reversed	1
HGVS	NC_000017.10:g.62022974C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006260.4, RCV000020271.2,