Have questions? Visit https://www.reddit.com/r/SNPedia

rs199476083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476083(A;A)
Make rs199476083(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position110800746
GeneMUSK
is asnp
is mentioned by
dbSNPrs199476083
ebirs199476083
HLIrs199476083
Exacrs199476083
Varsomers199476083
Maprs199476083
PheGenIrs199476083
hapmaprs199476083
1000 genomesrs199476083
hgdprs199476083
ensemblrs199476083
gopubmedrs199476083
geneviewrs199476083
scholarrs199476083
googlers199476083
pharmgkbrs199476083
gwascentralrs199476083
openSNPrs199476083
23andMers199476083
23andMe allrs199476083
SNP Nexus

SNPshotrs199476083
SNPdbers199476083
MSV3drs199476083
GWAS Ctlgrs199476083
Max Magnitude0
ClinVar
Risk rs199476083(A;A)
Alt rs199476083(A;A)
Reference rs199476083(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene MUSK
CLNDBN Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000009.11:g.113563026G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008722.3,