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rs387906803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906803(C;G)
Make rs387906803(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position110767930
GeneMUSK
is asnp
is mentioned by
dbSNPrs387906803
ebirs387906803
HLIrs387906803
Exacrs387906803
Varsomers387906803
Maprs387906803
PheGenIrs387906803
hapmaprs387906803
1000 genomesrs387906803
hgdprs387906803
ensemblrs387906803
gopubmedrs387906803
geneviewrs387906803
scholarrs387906803
googlers387906803
pharmgkbrs387906803
gwascentralrs387906803
openSNPrs387906803
23andMers387906803
23andMe allrs387906803
SNP Nexus

SNPshotrs387906803
SNPdbers387906803
MSV3drs387906803
GWAS Ctlgrs387906803
Max Magnitude0
ClinVar
Risk rs387906803(G;G)
Alt rs387906803(G;G)
Reference rs387906803(C;C)
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.113530210C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023093.3,