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: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.727 22 2003 2019
dbSNP: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.727 22 2003 2019
dbSNP: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.050 1.000 5 2000 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: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.040 1.000 4 2004 2017
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: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2012 2019
dbSNP: rs1800472
rs1800472 		0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.040 1.000 4 2007 2018
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0346629
Disease: Malignant neoplasm of large intestine
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
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
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
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
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
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
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
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
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: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 0.667 3 2007 2014
dbSNP: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 0.667 3 2007 2014
dbSNP: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 1.000 3 2010 2016
dbSNP: rs1800471
rs1800471 		0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2013 2019
dbSNP: rs1800471
rs1800471 		0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2013 2019
dbSNP: rs1982073
rs1982073 		0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.333 3 2004 2017
dbSNP: rs1982073
rs1982073 		0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2019
dbSNP: rs1982073
rs1982073 		0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2011 2018