TBL2, transducin beta like 2, 26608

N. diseases: 190; N. variants: 10
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: rs13232120
rs13232120
0.925 0.120 7 73568980 3 prime UTR variant A/T snv 0.11
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: rs14415
rs14415
0.925 0.120 7 73570450 3 prime UTR variant T/C snv 0.23 0.28
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: rs14415
rs14415
0.925 0.120 7 73570450 3 prime UTR variant T/C snv 0.23 0.28
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: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
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: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
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: rs2286276
rs2286276
0.925 0.120 7 73573024 non coding transcript exon variant C/T snv 0.28
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: rs2286276
rs2286276
0.925 0.120 7 73573024 non coding transcript exon variant C/T snv 0.28
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: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.710 1.000 2 2014 2017
dbSNP: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs17145738
rs17145738
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019