TRIM46, tripartite motif containing 46, 80128

N. diseases: 17; N. variants: 7
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: rs11264341
rs11264341
0.925 0.120 1 155179017 intron variant C/T snv 0.40
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 2 2013 2019
dbSNP: rs11264341
rs11264341
0.925 0.120 1 155179017 intron variant C/T snv 0.40
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: rs11264341
rs11264341
0.925 0.120 1 155179017 intron variant C/T snv 0.40
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: rs11264341
rs11264341
0.925 0.120 1 155179017 intron variant C/T snv 0.40
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs2070803
rs2070803
0.925 0.080 1 155185239 intron variant G/A snv 0.55
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs2070803
rs2070803
0.925 0.080 1 155185239 intron variant G/A snv 0.55
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs3814316
rs3814316
0.925 0.120 1 155177242 synonymous variant G/A snv 0.43 0.36
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: rs3814316
rs3814316
0.925 0.120 1 155177242 synonymous variant G/A snv 0.43 0.36
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: rs4971059
rs4971059
0.851 0.200 1 155176305 intron variant G/A snv 0.34
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: rs4971059
rs4971059
0.851 0.200 1 155176305 intron variant G/A snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4971059
rs4971059
0.851 0.200 1 155176305 intron variant G/A snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4971059
rs4971059
0.851 0.200 1 155176305 intron variant G/A snv 0.34
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: rs4971099
rs4971099
1.000 0.040 1 155183132 intron variant A/C;G;T snv
CUI: C0011334
Disease: Dental caries
Dental caries
Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4971100
rs4971100
0.925 0.120 1 155183255 intron variant G/A snv 0.39
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs4971100
rs4971100
0.925 0.120 1 155183255 intron variant G/A snv 0.39
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs4971100
rs4971100
0.925 0.120 1 155183255 intron variant G/A snv 0.39
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement
0.700 1.000 1 2015 2015
dbSNP: rs4971100
rs4971100
0.925 0.120 1 155183255 intron variant G/A 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: rs4971100
rs4971100
0.925 0.120 1 155183255 intron variant G/A 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: rs9426886
rs9426886
0.851 0.200 1 155179278 intron variant A/T snv 0.40
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: rs9426886
rs9426886
0.851 0.200 1 155179278 intron variant A/T snv 0.40
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: rs2070803
rs2070803
0.925 0.080 1 155185239 intron variant G/A snv 0.55
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2017
dbSNP: rs2070803
rs2070803
0.925 0.080 1 155185239 intron variant G/A snv 0.55
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2017
dbSNP: rs2070803
rs2070803
0.925 0.080 1 155185239 intron variant G/A snv 0.55
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9426886
rs9426886
0.851 0.200 1 155179278 intron variant A/T snv 0.40
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs9426886
rs9426886
0.851 0.200 1 155179278 intron variant A/T snv 0.40
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013