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rs578430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs578430(G;T)
Make rs578430(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position110800863
GeneMUSK
is asnp
is mentioned by
dbSNPrs578430
ebirs578430
HLIrs578430
Exacrs578430
Varsomers578430
Maprs578430
PheGenIrs578430
hapmaprs578430
1000 genomesrs578430
hgdprs578430
ensemblrs578430
gopubmedrs578430
geneviewrs578430
scholarrs578430
googlers578430
pharmgkbrs578430
gwascentralrs578430
openSNPrs578430
23andMers578430
23andMe allrs578430
SNP Nexus

SNPshotrs578430
SNPdbers578430
MSV3drs578430
GWAS Ctlgrs578430
GMAF0.08953
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene MUSK
allele T
frequency 0.026
sift TOLERATED
HuRef 1103652159970
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-V829L
aa_change Val829Leu
aa_change_short V829L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0969537
summary



ClinVar
Risk rs578430(T;T)
Alt rs578430(T;T)
Reference rs578430(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene MUSK
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.113563143G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000117645.2,