rs121908545

Orientation

minus

Stabilized

minus

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

Make rs121908545(A;A)

Make rs121908545(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941939

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908545
dbSNP (classic)	rs121908545
ClinGen	rs121908545
ebi	rs121908545
HLI	rs121908545
Exac	rs121908545
Gnomad	rs121908545
Varsome	rs121908545
LitVar	rs121908545
Map	rs121908545
PheGenI	rs121908545
Biobank	rs121908545
1000 genomes	rs121908545
hgdp	rs121908545
ensembl	rs121908545
geneview	rs121908545
scholar	rs121908545
google	rs121908545
pharmgkb	rs121908545
gwascentral	rs121908545
openSNP	rs121908545
23andMe	rs121908545
SNPshot	rs121908545
SNPdbe	rs121908545
MSV3d	rs121908545
GWAS Ctlg	rs121908545

Max Magnitude

0

OMIM	603967
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908545(A;A) rs121908545(C;C)
Alt	rs121908545(A;A) rs121908545(C;C)
Reference	Rs121908545(G;G)
Significance	Pathogenic
Disease	Hyperkalemic Periodic Paralysis Type 1 Paramyotonia congenita of von Eulenburg
Variation	info
Gene	SCN4A
CLNDBN	Hyperkalemic Periodic Paralysis Type 1 Paramyotonia congenita of von Eulenburg
Reversed	1
HGVS	NC_000017.10:g.62019299C>G; NC_000017.10:g.62019299C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000206910.1, RCV000006259.4, RCV000206992.1,