Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751889864
rs751889864
Entrez Id: 4593;107987115
Gene Symbol: MUSK;LOC107987115
MUSK;LOC107987115
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		0.800 GeneticVariation UNIPROT
dbSNP: rs751889864
rs751889864
Entrez Id: 4593;107987115
Gene Symbol: MUSK;LOC107987115
MUSK;LOC107987115
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		C 0.800 CausalMutation CLINVAR