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: rs4803
rs4803 		0.925 0.120 2 27444430 3 prime UTR variant A/G;T snv 0.42
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4803
rs4803 		0.925 0.120 2 27444430 3 prime UTR variant A/G;T snv 0.42
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs149614625
rs149614625 		1.000 2 27444503 missense variant A/G snv 1.2E-05 4.2E-05
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 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: rs786205856
rs786205856 		1.000 2 27445929 missense variant A/C snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.800 0
dbSNP: rs786205855
rs786205855 		1.000 2 27446314 missense variant G/T snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.800 0
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: rs587777079
rs587777079 		0.925 0.160 2 27447544 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 1 2013 2013
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: 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: rs151269177
rs151269177 		2 27452065 intron variant ACA/-;ACAACA delins 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
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: rs780104
rs780104 		0.925 0.120 2 27454824 intron variant G/A snv 0.47
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780104
rs780104 		0.925 0.120 2 27454824 intron variant G/A snv 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
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: rs786205858
rs786205858 		1.000 2 27457760 splice region variant A/T snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71 		0.700 0
dbSNP: rs780106
rs780106 		0.925 0.120 2 27458731 intron variant A/C;G;T snv 0.42; 4.1E-06
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780106
rs780106 		0.925 0.120 2 27458731 intron variant A/C;G;T snv 0.42; 4.1E-06
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
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: 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: 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: rs780107
rs780107 		0.925 0.120 2 27461867 intron variant A/G;T snv 0.42; 4.0E-06
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780107
rs780107 		0.925 0.120 2 27461867 intron variant A/G;T snv 0.42; 4.0E-06
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013