TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
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: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.810 1.000 4 2014 2018
dbSNP: rs4803455
rs4803455
0.752 0.280 19 41345604 intron variant C/A snv 0.51
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs104894721
rs104894721
1.000 0.080 19 41342230 missense variant G/A snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.740 1.000 4 2003 2014
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.710 1.000 4 2011 2016
dbSNP: rs104894719
rs104894719
1.000 0.080 19 41342209 missense variant A/G snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2001 2001
dbSNP: rs200482214
rs200482214
0.882 0.200 19 41348345 missense variant G/A snv 2.8E-05
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2013 2013
dbSNP: rs281865484
rs281865484
1.000 0.080 19 41348306 missense variant C/G;T snv 4.0E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
Malignant neoplasm of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs8108632
rs8108632
1.000 0.040 19 41348629 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 2 2017 2017
dbSNP: rs11466328
rs11466328
19 41345137 intron variant G/A snv 2.0E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth
Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs11466334
rs11466334
1.000 0.080 19 41341832 intron variant G/A snv 5.9E-03 2.4E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12980942
rs12980942
1.000 0.040 19 41326326 intron variant G/A snv 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1336387628
rs1336387628
1.000 19 41331066 missense variant A/C;G;T snv
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
0.700 1.000 1 2018 2018
dbSNP: rs1555755242
rs1555755242
1.000 19 41352717 missense variant G/A snv
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
0.700 1.000 1 2018 2018
dbSNP: rs1555755308
rs1555755308
1.000 19 41352912 missense variant G/A snv
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
0.700 1.000 1 2018 2018
dbSNP: rs1800469
rs1800469
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1800470
rs1800470
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2241716
rs2241716
1.000 0.080 19 41348181 intron variant C/T snv 4.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs2288874
rs2288874
1.000 0.040 19 41346870 intron variant T/C snv 0.62
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018