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: 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 0 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 0 2001 2001
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 0 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: 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: 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: rs11466328
rs11466328
TGFB1
19 41345137 intron variant G/A snv 2.0E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 1.000 1 2017 2017
dbSNP: rs11466334
rs11466334
TGFB1
1.000 0.080 19 41341832 intron variant G/A snv 5.9E-03 2.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2019 2019
dbSNP: rs12980942
rs12980942
TGFB1
1.000 0.040 19 41326326 intron variant G/A snv 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
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: rs1555755242
rs1555755242
TGFB1
1.000 19 41352717 missense variant G/A snv
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		0.700 1.000 1 2018 2018
dbSNP: rs1555755308
rs1555755308
TGFB1
1.000 19 41352912 missense variant G/A snv
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		0.700 1.000 1 2018 2018
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: 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: 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: rs2288874
rs2288874
TGFB1
1.000 0.040 19 41346870 intron variant T/C snv 0.62
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018