rs587777079
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
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 |
rs587777085
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
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 |
rs149614625
|
IFT172;KRTCAP3
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs149614625
|
IFT172;KRTCAP3
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777079
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777085
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs786205855
|
IFT172;KRTCAP3
|
RETINITIS PIGMENTOSA 71
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs786205855
|
IFT172;KRTCAP3
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205856
|
IFT172;KRTCAP3
|
RETINITIS PIGMENTOSA 71
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs786205856
|
IFT172;KRTCAP3
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205857
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205857
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
RETINITIS PIGMENTOSA 71
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs151269177
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
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 |
rs587777079
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Familial aplasia of the vermis
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs1260345
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Gout
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs1260345
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs1647266
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Gout
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs1647266
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs1647276
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Gout
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs1647276
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs2272417
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs2272417
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
Gout
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs4803
|
IFT172;KRTCAP3
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs4803
|
IFT172;KRTCAP3
|
Gout
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
23263486 |
2013 |
rs587777080
|
Entrez Id: |
26160 |
Gene Symbol: |
IFT172 |
IFT172
|
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 |