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rs551423795

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs551423795(A;G)
Make rs551423795(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position110687218
GeneMUSK
is asnp
is mentioned by
dbSNPrs551423795
ebirs551423795
HLIrs551423795
Exacrs551423795
Varsomers551423795
Maprs551423795
PheGenIrs551423795
hapmaprs551423795
1000 genomesrs551423795
hgdprs551423795
ensemblrs551423795
gopubmedrs551423795
geneviewrs551423795
scholarrs551423795
googlers551423795
pharmgkbrs551423795
gwascentralrs551423795
openSNPrs551423795
23andMers551423795
23andMe allrs551423795
SNP Nexus

SNPshotrs551423795
SNPdbers551423795
MSV3drs551423795
GWAS Ctlgrs551423795
Max Magnitude0
ClinVar
Risk rs551423795(G;G)
Alt rs551423795(G;G)
Reference rs551423795(A;A)
Significance Probable-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.113449498A>G
CLNSRC
CLNACC RCV000202607.1,