IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 10 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: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
dbSNP: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.800 CausalMutation CLINVAR