rs121908556

Orientation

minus

Stabilized

minus

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

Make rs121908556(C;G)

Make rs121908556(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63957515

Gene	LOC105371858, SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908556
dbSNP (classic)	rs121908556
ClinGen	rs121908556
ebi	rs121908556
HLI	rs121908556
Exac	rs121908556
Gnomad	rs121908556
Varsome	rs121908556
LitVar	rs121908556
Map	rs121908556
PheGenI	rs121908556
Biobank	rs121908556
1000 genomes	rs121908556
hgdp	rs121908556
ensembl	rs121908556
geneview	rs121908556
scholar	rs121908556
google	rs121908556
pharmgkb	rs121908556
gwascentral	rs121908556
openSNP	rs121908556
23andMe	rs121908556
SNPshot	rs121908556
SNPdbe	rs121908556
MSV3d	rs121908556
GWAS Ctlg	rs121908556

Max Magnitude

0

OMIM	603967
Desc
Variant	0022
Related	also

OMIM	603967
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121908556(G;G) rs121908556(T;T)
Alt	rs121908556(G;G) rs121908556(T;T)
Reference	Rs121908556(C;C)
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.62034875G>A; NC_000017.10:g.62034875G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006263.5, RCV000206954.1, RCV000006281.5, RCV000206909.1,