Source: BEFREE

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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.050 1.000 5 2000 2013
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2000 2015
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2000 2000
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C2350242
Disease: Osteoarthritis, Spine
Osteoarthritis, Spine 		0.010 1.000 1 2000 2000
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		0.010 1.000 1 2000 2000
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 1.000 1 2001 2001
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2001 2001
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 < 0.001 1 2001 2001
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure 		0.010 1.000 1 2001 2001
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		0.010 1.000 1 2002 2002
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2002 2002
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2003 2008
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2003 2006
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2003 2003
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.010 < 0.001 1 2003 2003
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2003 2003
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		0.010 < 0.001 1 2003 2003
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2004 2004
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		0.010 1.000 1 2004 2004
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.010 1.000 1 2004 2004
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.020 1.000 2 2005 2015
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 1.000 1 2005 2005
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 1.000 1 2005 2005