IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2272417
rs2272417 		0.925 0.120 2 27483773 intron variant T/C snv 0.39
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2272417
rs2272417 		0.925 0.120 2 27483773 intron variant T/C snv 0.39
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs587777079
rs587777079 		0.925 0.160 2 27447544 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587777080
rs587777080 		0.925 2 27447567 missense variant A/G snv
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2013 2013
dbSNP: rs780110
rs780110 		0.925 0.120 2 27462521 intron variant G/A snv 0.56
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs780110
rs780110 		0.925 0.120 2 27462521 intron variant G/A snv 0.56
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1250676888
rs1250676888 		0.925 2 27480124 stop gained G/A snv 4.0E-06
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1250676888
rs1250676888 		0.925 2 27480124 stop gained G/A snv 4.0E-06
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs139021548
rs139021548 		1.000 2 27485431 stop gained G/A;C snv 2.4E-05; 8.0E-06
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs145541911
rs145541911 		0.925 2 27480049 missense variant G/A snv 9.2E-05 2.9E-04
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs145541911
rs145541911 		0.925 2 27480049 missense variant G/A snv 9.2E-05 2.9E-04
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs370540673
rs370540673 		1.000 2 27471096 splice acceptor variant C/A;T snv 4.2E-06; 8.4E-06
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs587777078
rs587777078 		1.000 2 27445436 frameshift variant TCTC/- delins 8.1E-06 1.4E-05
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777080
rs587777080 		0.925 2 27447567 missense variant A/G snv
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777081
rs587777081 		1.000 2 27459449 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777082
rs587777082 		1.000 2 27457638 splice donor variant C/T snv
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777083
rs587777083 		1.000 2 27470948 frameshift variant TC/-;TCTC delins
CUI: C4017085
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY 		0.700 0
dbSNP: rs587777084
rs587777084 		1.000 2 27476657 inframe deletion TCAATA/- delins
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777086
rs587777086 		1.000 2 27461794 frameshift variant G/- delins 2.8E-05
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777087
rs587777087 		1.000 2 27453428 stop gained G/A snv 8.0E-06
CUI: C4017085
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY 		0.700 0
dbSNP: rs750338419
rs750338419 		0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs750338419
rs750338419 		0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs750338419
rs750338419 		0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs786205858
rs786205858 		1.000 2 27457760 splice region variant A/T snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0