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
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
0.800 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation UNIPROT
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
G 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
A 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
T 0.800 CausalMutation CLINVAR
dbSNP: rs786205855
rs786205855
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71
T 0.800 CausalMutation CLINVAR
dbSNP: rs786205855
rs786205855
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71
0.800 GeneticVariation UNIPROT
dbSNP: rs786205856
rs786205856
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71
C 0.800 CausalMutation CLINVAR
dbSNP: rs786205856
rs786205856
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
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
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: 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: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0431399
Disease:
Familial aplasia of the vermis
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
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: 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 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: 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 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: rs4803
rs4803
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
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: rs4803
rs4803
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs587777080
rs587777080
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
0.700 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013