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: 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: 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: 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: rs75621460
rs75621460
TGFB1
0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.700 1.000 1 2019 2019
dbSNP: rs75621460
rs75621460
TGFB1
0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.700 1.000 1 2019 2019
dbSNP: rs75621460
rs75621460
TGFB1
0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2019 2019
dbSNP: rs863225150
rs863225150
TGFB1 ; B9D2
0.925 0.160 19 41355008 missense variant G/A snv
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
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