rs121908550

Orientation

minus

Stabilized

minus

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

Make rs121908550(G;G)

Make rs121908550(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941984

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908550
dbSNP (classic)	rs121908550
ClinGen	rs121908550
ebi	rs121908550
HLI	rs121908550
Exac	rs121908550
Gnomad	rs121908550
Varsome	rs121908550
LitVar	rs121908550
Map	rs121908550
PheGenI	rs121908550
Biobank	rs121908550
1000 genomes	rs121908550
hgdp	rs121908550
ensembl	rs121908550
geneview	rs121908550
scholar	rs121908550
google	rs121908550
pharmgkb	rs121908550
gwascentral	rs121908550
openSNP	rs121908550
23andMe	rs121908550
SNPshot	rs121908550
SNPdbe	rs121908550
MSV3d	rs121908550
GWAS Ctlg	rs121908550

Max Magnitude

0

OMIM	603967
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908550(G;G)
Alt	rs121908550(G;G)
Reference	Rs121908550(T;T)
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.62019344A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006270.4,