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: 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: rs786205856
rs786205856
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		C 0.800 CausalMutation CLINVAR
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: 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: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs370540673
rs370540673
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777078
rs587777078
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		T 0.700 CausalMutation CLINVAR
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: rs587777080
rs587777080
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777081
rs587777081
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777082
rs587777082
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777083
rs587777083
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017085
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs587777084
rs587777084
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777086
rs587777086
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017084
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777087
rs587777087
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4017085
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs750338419
rs750338419
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0024507
Disease:
Majewski Syndrome 		AT 0.700 GeneticVariation CLINVAR
dbSNP: rs750338419
rs750338419
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs750338419
rs750338419
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs786205858
rs786205858
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C4225342
Disease:
RETINITIS PIGMENTOSA 71 		T 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