rs80338956

Orientation

minus

Stabilized

minus

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

Make rs80338956(C;C)

Make rs80338956(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63957460

Gene	LOC105371858, SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338956
dbSNP (classic)	rs80338956
ClinGen	rs80338956
ebi	rs80338956
HLI	rs80338956
Exac	rs80338956
Gnomad	rs80338956
Varsome	rs80338956
LitVar	rs80338956
Map	rs80338956
PheGenI	rs80338956
Biobank	rs80338956
1000 genomes	rs80338956
hgdp	rs80338956
ensembl	rs80338956
geneview	rs80338956
scholar	rs80338956
google	rs80338956
pharmgkb	rs80338956
gwascentral	rs80338956
openSNP	rs80338956
23andMe	rs80338956
SNPshot	rs80338956
SNPdbe	rs80338956
MSV3d	rs80338956
GWAS Ctlg	rs80338956

Max Magnitude

0

OMIM	603967
Desc
Variant	0028
Related	also

ClinVar
Risk	rs80338956(C;C)
Alt	rs80338956(C;C)
Reference	Rs80338956(T;T)
Significance	Pathogenic
Disease	Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1 not provided
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1 not provided
Reversed	1
HGVS	NC_000017.10:g.62034820A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006286.5, RCV000020266.2, RCV000485864.1,