rs863225046

Orientation

minus

Stabilized

minus

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

Make rs863225046(A;A)

Make rs863225046(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

63941912

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs863225046
dbSNP (classic)	rs863225046
ClinGen	rs863225046
ebi	rs863225046
HLI	rs863225046
Exac	rs863225046
Gnomad	rs863225046
Varsome	rs863225046
LitVar	rs863225046
Map	rs863225046
PheGenI	rs863225046
Biobank	rs863225046
1000 genomes	rs863225046
hgdp	rs863225046
ensembl	rs863225046
geneview	rs863225046
scholar	rs863225046
google	rs863225046
pharmgkb	rs863225046
gwascentral	rs863225046
openSNP	rs863225046
23andMe	rs863225046
SNPshot	rs863225046
SNPdbe	rs863225046
MSV3d	rs863225046
GWAS Ctlg	rs863225046

Max Magnitude

0

ClinVar
Risk	rs863225046(A;A)
Alt	rs863225046(A;A)
Reference	Rs863225046(G;G)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	SCN4A
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive
Reversed	1
HGVS	NC_000017.10:g.62019272C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201212.3,