rs121908557

Orientation

minus

Stabilized

minus

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

Make rs121908557(A;A)

Make rs121908557(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63957514

Gene	LOC105371858, SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908557
dbSNP (classic)	rs121908557
ClinGen	rs121908557
ebi	rs121908557
HLI	rs121908557
Exac	rs121908557
Gnomad	rs121908557
Varsome	rs121908557
LitVar	rs121908557
Map	rs121908557
PheGenI	rs121908557
Biobank	rs121908557
1000 genomes	rs121908557
hgdp	rs121908557
ensembl	rs121908557
geneview	rs121908557
scholar	rs121908557
google	rs121908557
pharmgkb	rs121908557
gwascentral	rs121908557
openSNP	rs121908557
23andMe	rs121908557
SNPshot	rs121908557
SNPdbe	rs121908557
MSV3d	rs121908557
GWAS Ctlg	rs121908557

Max Magnitude

0

OMIM	603967
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121908557(A;A)
Alt	rs121908557(A;A)
Reference	Rs121908557(G;G)
Significance	Pathogenic
Disease	Normokalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation	info
Gene	SCN4A
CLNDBN	Normokalemic periodic paralysis, potassium-sensitive Hyperkalemic Periodic Paralysis Type 1
Reversed	1
HGVS	NC_000017.10:g.62034874C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006282.4, RCV000206996.1,