rs121908554

Orientation

minus

Stabilized

minus

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

Make rs121908554(A;A)

Make rs121908554(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941915

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908554
dbSNP (classic)	rs121908554
ClinGen	rs121908554
ebi	rs121908554
HLI	rs121908554
Exac	rs121908554
Gnomad	rs121908554
Varsome	rs121908554
LitVar	rs121908554
Map	rs121908554
PheGenI	rs121908554
Biobank	rs121908554
1000 genomes	rs121908554
hgdp	rs121908554
ensembl	rs121908554
geneview	rs121908554
scholar	rs121908554
google	rs121908554
pharmgkb	rs121908554
gwascentral	rs121908554
openSNP	rs121908554
23andMe	rs121908554
SNPshot	rs121908554
SNPdbe	rs121908554
MSV3d	rs121908554
GWAS Ctlg	rs121908554

Max Magnitude

0

OMIM	603967
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121908554(A;A)
Alt	rs121908554(A;A)
Reference	Rs121908554(G;G)
Significance	Pathogenic
Disease	Paramyotonia congenita of von Eulenburg
Variation	info
Gene	SCN4A
CLNDBN	Paramyotonia congenita of von Eulenburg
Reversed	1
HGVS	NC_000017.10:g.62019275C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006278.5,