rs121908547

Orientation

minus

Stabilized

minus

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

Make rs121908547(C;T)

Make rs121908547(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63943825

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908547
dbSNP (classic)	rs121908547
ClinGen	rs121908547
ebi	rs121908547
HLI	rs121908547
Exac	rs121908547
Gnomad	rs121908547
Varsome	rs121908547
LitVar	rs121908547
Map	rs121908547
PheGenI	rs121908547
Biobank	rs121908547
1000 genomes	rs121908547
hgdp	rs121908547
ensembl	rs121908547
geneview	rs121908547
scholar	rs121908547
google	rs121908547
pharmgkb	rs121908547
gwascentral	rs121908547
openSNP	rs121908547
23andMe	rs121908547
SNPshot	rs121908547
SNPdbe	rs121908547
MSV3d	rs121908547
GWAS Ctlg	rs121908547

Max Magnitude

0

OMIM	603967
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908547(T;T)
Alt	rs121908547(T;T)
Reference	Rs121908547(C;C)
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.62021185G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006266.4, RCV000414134.1,