WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906982
rs387906982
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
dbSNP: rs387906982
rs387906982
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		C 0.800 CausalMutation CLINVAR