Source: CURATED

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: 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: rs56254331
rs56254331
TGFB1 ; CCDC97
19 41320115 intron variant A/C;G snv 0.11
CUI: C0018965
Disease: Hematuria
Hematuria 		0.700 1.000 1 2019 2019
dbSNP: rs1336387628
rs1336387628
TGFB1
1.000 19 41331066 missense variant A/C;G;T snv
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		0.700 1.000 1 2018 2018
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: 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: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
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
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 3 2014 2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
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
TGFB1 ; B9D2
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
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
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 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
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
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 3 2011 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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 0 2001 2001
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: rs4803455
rs4803455
TGFB1
0.752 0.280 19 41345604 intron variant C/A snv 0.51
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs4803455
rs4803455
TGFB1
0.752 0.280 19 41345604 intron variant C/A snv 0.51
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.800 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 0 2017 2017
dbSNP: rs2241716
rs2241716
TGFB1
1.000 0.080 19 41348181 intron variant C/T snv 4.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs73045269
rs73045269
TGFB1 ; CCDC97
1.000 0.040 19 41319286 intron variant C/T snv 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs750436680
rs750436680
TGFB1 ; B9D2
0.925 0.160 19 41354765 missense variant C/T snv 4.0E-06
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 1.000 1 2015 2015
dbSNP: rs750436680
rs750436680
TGFB1 ; B9D2
0.925 0.160 19 41354765 missense variant C/T snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
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