rs121908553

Orientation

minus

Stabilized

minus

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

Make rs121908553(A;A)

Make rs121908553(A;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941957

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs121908553
dbSNP (classic)	rs121908553
ClinGen	rs121908553
ebi	rs121908553
HLI	rs121908553
Exac	rs121908553
Gnomad	rs121908553
Varsome	rs121908553
LitVar	rs121908553
Map	rs121908553
PheGenI	rs121908553
Biobank	rs121908553
1000 genomes	rs121908553
hgdp	rs121908553
ensembl	rs121908553
geneview	rs121908553
scholar	rs121908553
google	rs121908553
pharmgkb	rs121908553
gwascentral	rs121908553
openSNP	rs121908553
23andMe	rs121908553
SNPshot	rs121908553
SNPdbe	rs121908553
MSV3d	rs121908553
GWAS Ctlg	rs121908553

Max Magnitude

0

OMIM	603967
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121908553(A;A)
Alt	rs121908553(A;A)
Reference	Rs121908553(T;T)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome Congenital myasthenic syndrome
Variation	info
Gene	SCN4A
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive Congenital myasthenic syndrome
Reversed	1
HGVS	NC_000017.10:g.62019317A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006277.5, RCV000235023.1,