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rs35142681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35142681(C;T)
Make rs35142681(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position110687209
GeneMUSK
is asnp
is mentioned by
dbSNPrs35142681
ebirs35142681
HLIrs35142681
Exacrs35142681
Varsomers35142681
Maprs35142681
PheGenIrs35142681
hapmaprs35142681
1000 genomesrs35142681
hgdprs35142681
ensemblrs35142681
gopubmedrs35142681
geneviewrs35142681
scholarrs35142681
googlers35142681
pharmgkbrs35142681
gwascentralrs35142681
openSNPrs35142681
23andMers35142681
23andMe allrs35142681
SNP Nexus

SNPshotrs35142681
SNPdbers35142681
MSV3drs35142681
GWAS Ctlgrs35142681
GMAF0.01331
Max Magnitude0
Venter snp
Source plos
Gene MUSK
allele T
frequency
sift
HuRef 1103652159799
Disease Association Defects in MUSK may be a cause of autosomal recessive congenital myasthenic syndrome (CMS). Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.



GET Evidence
MUSK-T100M
aa_change Thr100Met
aa_change_short T100M
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.023413
summary Probably benign.



ClinVar
Risk rs35142681(T;T)
Alt rs35142681(T;T)
Reference rs35142681(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MUSK
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.113449489C>T
CLNSRC ClinVar
CLNACC RCV000117646.1,