rs578430

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs578430(G;T)

Make rs578430(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

110800863

Gene

MUSK

is a	snp
is	mentioned by
dbSNP	rs578430
dbSNP (classic)	rs578430
ClinGen	rs578430
ebi	rs578430
HLI	rs578430
Exac	rs578430
Gnomad	rs578430
Varsome	rs578430
LitVar	rs578430
Map	rs578430
PheGenI	rs578430
Biobank	rs578430
1000 genomes	rs578430
hgdp	rs578430
ensembl	rs578430
geneview	rs578430
scholar	rs578430
google	rs578430
pharmgkb	rs578430
gwascentral	rs578430
openSNP	rs578430
23andMe	rs578430
SNPshot	rs578430
SNPdbe	rs578430
MSV3d	rs578430
GWAS Ctlg	rs578430

GMAF

0.08953

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs578430(A;A) rs578430(C;C) rs578430(T;T)
Alt	rs578430(A;A) rs578430(C;C) rs578430(T;T)
Reference	Rs578430(G;G)
Significance	Other
Disease	not specified Congenital Myasthenic Syndrome
Variation	info
Gene	MUSK
CLNDBN	not specified Congenital Myasthenic Syndrome, Recessive
Reversed	0
HGVS	NC_000009.11:g.113563143G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000117645.4, RCV000354244.1,