rs121908551

Orientation

minus

Stabilized

minus

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

Make rs121908551(A;A)

Make rs121908551(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63944708

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908551
dbSNP (classic)	rs121908551
ClinGen	rs121908551
ebi	rs121908551
HLI	rs121908551
Exac	rs121908551
Gnomad	rs121908551
Varsome	rs121908551
LitVar	rs121908551
Map	rs121908551
PheGenI	rs121908551
Biobank	rs121908551
1000 genomes	rs121908551
hgdp	rs121908551
ensembl	rs121908551
geneview	rs121908551
scholar	rs121908551
google	rs121908551
pharmgkb	rs121908551
gwascentral	rs121908551
openSNP	rs121908551
23andMe	rs121908551
SNPshot	rs121908551
SNPdbe	rs121908551
MSV3d	rs121908551
GWAS Ctlg	rs121908551

Max Magnitude

0

OMIM	603967
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908551(A;A)
Alt	rs121908551(A;A)
Reference	Rs121908551(G;G)
Significance	Pathogenic
Disease	Paramyotonia congenita of von Eulenburg not provided
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita of von Eulenburg not provided
Reversed	1
HGVS	NC_000017.10:g.62022068C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006272.3, RCV000396578.1,