Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2015 2020
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		0.010 1.000 1 2020 2020
dbSNP: rs1800470
rs1800470
TGFB1
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 		0.100 0.727 22 2003 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.727 22 2003 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2015 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2010 2018
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 1.000 2 2016 2018
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.010 < 0.001 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
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: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 0.500 2 2015 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 0.500 2 2015 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.020 1.000 2 2015 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 0.500 2 2015 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0043144
Disease: Wheezing
Wheezing 		0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0014742
Disease: Erythema Multiforme
Erythema Multiforme 		0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
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 		0.030 1.000 3 2010 2016
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.010 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.010 1.000 1 2016 2016