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: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.810 1.000 1 2014 2018
dbSNP: rs104894721
rs104894721
TGFB1
1.000 0.080 19 41342230 missense variant G/A snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.740 1.000 4 2003 2014
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: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2011 2016
dbSNP: rs200482214
rs200482214
TGFB1
0.882 0.200 19 41348345 missense variant G/A snv 2.8E-05
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 1.000 1 2013 2013
dbSNP: rs281865484
rs281865484
TGFB1
1.000 0.080 19 41348306 missense variant C/G;T snv 4.0E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 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: 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: 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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.050 1.000 5 2000 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.040 1.000 4 2004 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2012 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2012 2019
dbSNP: rs1800472
rs1800472
TGFB1
0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.040 1.000 4 2007 2018
dbSNP: rs1800470
rs1800470
TGFB1
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 		0.030 0.667 3 2007 2014
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 0.667 3 2007 2014
dbSNP: rs1800471
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2013 2019
dbSNP: rs1800471
rs1800471
TGFB1
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 		0.030 1.000 3 2013 2019
dbSNP: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2011 2018
dbSNP: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2011 2019
dbSNP: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2011 2019
dbSNP: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.030 0.333 3 2004 2017
dbSNP: rs2241718
rs2241718
TGFB1 ; CCDC97
0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.030 0.667 3 2011 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2012 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2012 2019