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: rs104894720
rs104894720
TGFB1
1.000 0.080 19 41342229 missense variant C/T snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.700 0
dbSNP: rs104894722
rs104894722
TGFB1
1.000 0.080 19 41342215 missense variant A/C;G;T snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.700 0
dbSNP: rs111033611
rs111033611
TGFB1
1.000 0.080 19 41352804 missense variant A/G snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.700 0
dbSNP: rs1336387628
rs1336387628
TGFB1
1.000 19 41331066 missense variant A/C;G;T snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs1487082103
rs1487082103
TGFB1 ; B9D2
0.925 0.320 19 41354927 missense variant T/G snv 8.2E-06
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 0
dbSNP: rs1555755242
rs1555755242
TGFB1
1.000 19 41352717 missense variant G/A snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs1555755308
rs1555755308
TGFB1
1.000 19 41352912 missense variant G/A snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs281865483
rs281865483
TGFB1
1.000 0.080 19 41353006 inframe insertion -/AGCAGCAGC delins 7.5E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.700 0
dbSNP: rs281865485
rs281865485
TGFB1
1.000 0.080 19 41342218 missense variant G/C snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.700 0
dbSNP: rs863225150
rs863225150
TGFB1 ; B9D2
0.925 0.160 19 41355008 missense variant G/A snv
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 0
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: rs1800471
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		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: 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: 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: C0949690
Disease: Spondylarthritis
Spondylarthritis 		0.010 1.000 1 2000 2000
dbSNP: rs1017621656
rs1017621656
TGFB1
0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs1017621656
rs1017621656
TGFB1
0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2001 2001
dbSNP: rs1017621656
rs1017621656
TGFB1
0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2001 2001
dbSNP: rs104894719
rs104894719
TGFB1
1.000 0.080 19 41342209 missense variant A/G snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 1.000 1 2001 2001
dbSNP: rs1800471
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.020 1.000 2 2002 2013