rs121908544

Orientation

minus

Stabilized

minus

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

Make rs121908544(C;T)

Make rs121908544(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941940

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908544
dbSNP (classic)	rs121908544
ClinGen	rs121908544
ebi	rs121908544
HLI	rs121908544
Exac	rs121908544
Gnomad	rs121908544
Varsome	rs121908544
LitVar	rs121908544
Map	rs121908544
PheGenI	rs121908544
Biobank	rs121908544
1000 genomes	rs121908544
hgdp	rs121908544
ensembl	rs121908544
geneview	rs121908544
scholar	rs121908544
google	rs121908544
pharmgkb	rs121908544
gwascentral	rs121908544
openSNP	rs121908544
23andMe	rs121908544
SNPshot	rs121908544
SNPdbe	rs121908544
MSV3d	rs121908544
GWAS Ctlg	rs121908544

Max Magnitude

0

OMIM	603967
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908544(A;A) rs121908544(T;T)
Alt	rs121908544(A;A) rs121908544(T;T)
Reference	Rs121908544(C;C)
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.62019300G>A; NC_000017.10:g.62019300G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006258.5, RCV000206951.1, RCV000255921.1, RCV000206912.1,