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: rs587777079
rs587777079
0.925 0.160 2 27447544 missense variant G/A snv 1.2E-05 1.4E-05
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
0.800 1.000 1 2013 2013
dbSNP: rs587777085
rs587777085
1.000 2 27477310 missense variant A/T snv
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
0.800 1.000 1 2013 2013
dbSNP: rs149614625
rs149614625
1.000 2 27444503 missense variant A/G snv 1.2E-05 4.2E-05
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
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: rs786205856
rs786205856
1.000 2 27445929 missense variant A/C snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71
0.800 0
dbSNP: rs786205857
rs786205857
1.000 2 27481061 missense variant A/G snv
CUI: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71
0.800 0
dbSNP: rs1647266
rs1647266
0.925 0.120 2 27470618 intron variant T/C 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: rs1647266
rs1647266
0.925 0.120 2 27470618 intron variant T/C 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: rs1647276
rs1647276
0.925 0.120 2 27465734 intron variant C/T snv 0.42 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: rs1647276
rs1647276
0.925 0.120 2 27465734 intron variant C/T snv 0.42 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: 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: 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: 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: 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
dbSNP: rs780110
rs780110
0.925 0.120 2 27462521 intron variant G/A snv 0.56
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: rs780110
rs780110
0.925 0.120 2 27462521 intron variant G/A snv 0.56
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: rs780117
rs780117
0.925 0.120 2 27475476 intron variant C/G 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: rs780117
rs780117
0.925 0.120 2 27475476 intron variant C/G 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: rs1260345
rs1260345
0.925 0.120 2 27480628 intron variant A/G;T snv
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: rs1260345
rs1260345
0.925 0.120 2 27480628 intron variant A/G;T snv
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: 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