IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
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 		A 0.800 CausalMutation CLINVAR
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: rs587777085
rs587777085
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777085
rs587777085
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: rs786205857
rs786205857
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205857
rs786205857
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1250676888
rs1250676888
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1250676888
rs1250676888
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1260345
rs1260345
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1260345
rs1260345
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs139021548
rs139021548
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs145541911
rs145541911
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 GeneticVariation UNIPROT
dbSNP: rs145541911
rs145541911
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs151269177
rs151269177
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs1647266
rs1647266
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1647266
rs1647266
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs1647266
rs1647266
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1647266
rs1647266
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs1647276
rs1647276
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs1647276
rs1647276
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1647276
rs1647276
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs1647276
rs1647276
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2272417
rs2272417
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2272417
rs2272417
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs370540673
rs370540673
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		T 0.700 CausalMutation CLINVAR