Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554757237
rs1554757237
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I
A 0.700 GeneticVariation CLINVAR