rs80338951

Orientation

minus

Stabilized

minus

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

Make rs80338951(C;T)

Make rs80338951(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

63968322

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338951
dbSNP (classic)	rs80338951
ClinGen	rs80338951
ebi	rs80338951
HLI	rs80338951
Exac	rs80338951
Gnomad	rs80338951
Varsome	rs80338951
LitVar	rs80338951
Map	rs80338951
PheGenI	rs80338951
Biobank	rs80338951
1000 genomes	rs80338951
hgdp	rs80338951
ensembl	rs80338951
geneview	rs80338951
scholar	rs80338951
google	rs80338951
pharmgkb	rs80338951
gwascentral	rs80338951
openSNP	rs80338951
23andMe	rs80338951
SNPshot	rs80338951
SNPdbe	rs80338951
MSV3d	rs80338951
GWAS Ctlg	rs80338951

Max Magnitude

0

ClinVar
Risk	rs80338951(T;T)
Alt	rs80338951(T;T)
Reference	Rs80338951(C;C)
Significance	Pathogenic
Disease	Hyperkalemic Periodic Paralysis Type 1 Congenital myasthenic syndrome Congenital myasthenic syndrome
Variation	info
Gene	SCN4A
CLNDBN	Hyperkalemic Periodic Paralysis Type 1 Congenital myasthenic syndrome, acetazolamide-responsive Congenital myasthenic syndrome
Reversed	1
HGVS	NC_000017.10:g.62045682G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020280.2, RCV000201211.2, RCV000235040.1,