rs121908559

Orientation

minus

Stabilized

minus

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

Make rs121908559(A;A)

Make rs121908559(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941854

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908559
dbSNP (classic)	rs121908559
ClinGen	rs121908559
ebi	rs121908559
HLI	rs121908559
Exac	rs121908559
Gnomad	rs121908559
Varsome	rs121908559
LitVar	rs121908559
Map	rs121908559
PheGenI	rs121908559
Biobank	rs121908559
1000 genomes	rs121908559
hgdp	rs121908559
ensembl	rs121908559
geneview	rs121908559
scholar	rs121908559
google	rs121908559
pharmgkb	rs121908559
gwascentral	rs121908559
openSNP	rs121908559
23andMe	rs121908559
SNPshot	rs121908559
SNPdbe	rs121908559
MSV3d	rs121908559
GWAS Ctlg	rs121908559

Max Magnitude

0

OMIM	603967
Desc
Variant	0026
Related	also

ClinVar
Risk	rs121908559(A;A)
Alt	rs121908559(A;A)
Reference	Rs121908559(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.62019214C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006284.5,