rs121908560

Orientation

minus

Stabilized

minus

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

Make rs121908560(A;A)

Make rs121908560(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63944694

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908560
dbSNP (classic)	rs121908560
ClinGen	rs121908560
ebi	rs121908560
HLI	rs121908560
Exac	rs121908560
Gnomad	rs121908560
Varsome	rs121908560
LitVar	rs121908560
Map	rs121908560
PheGenI	rs121908560
Biobank	rs121908560
1000 genomes	rs121908560
hgdp	rs121908560
ensembl	rs121908560
geneview	rs121908560
scholar	rs121908560
google	rs121908560
pharmgkb	rs121908560
gwascentral	rs121908560
openSNP	rs121908560
23andMe	rs121908560
SNPshot	rs121908560
SNPdbe	rs121908560
MSV3d	rs121908560
GWAS Ctlg	rs121908560

Max Magnitude

0

OMIM	603967
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121908560(A;A)
Alt	rs121908560(A;A)
Reference	Rs121908560(C;C)
Significance	Pathogenic
Disease	Paramyotonia congenita/hyperkalemic periodic paralysis
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita/hyperkalemic periodic paralysis
Reversed	1
HGVS	NC_000017.10:g.62022054G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006285.5,