Source: CLINVAR

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: rs111426349
rs111426349
TGFBR1
0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2017
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2012
dbSNP: rs113605875
rs113605875
TGFBR1
0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2011 2017
dbSNP: rs121918710
rs121918710
TGFBR1
1.000 0.120 9 99142683 missense variant T/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2017
dbSNP: rs121918711
rs121918711
TGFBR1
1.000 0.120 9 99146553 missense variant A/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2017
dbSNP: rs121918712
rs121918712
TGFBR1
1.000 0.120 9 99137883 missense variant C/T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2017
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2006 2015
dbSNP: rs113605875
rs113605875
TGFBR1
0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2005 2012
dbSNP: rs111426349
rs111426349
TGFBR1
0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 6 2006 2016
dbSNP: rs113605875
rs113605875
TGFBR1
0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 1.000 6 2006 2012
dbSNP: rs760079636
rs760079636
TGFBR1
1.000 0.120 9 99142664 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 1.000 5 2006 2016
dbSNP: rs863223829
rs863223829
TGFBR1
1.000 0.120 9 99137962 inframe deletion AAG/- delins
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 1.000 4 2008 2015
dbSNP: rs111426349
rs111426349
TGFBR1
0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs1554700672
rs1554700672
TGFBR1
1.000 9 99138065 stop gained G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2011 2011
dbSNP: rs1564161224
rs1564161224
TGFBR1
1.000 9 99137859 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 1 2019 2019
dbSNP: rs387906697
rs387906697
TGFBR1
1.000 9 99146594 stop gained C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2011 2011
dbSNP: rs886039176
rs886039176
TGFBR1
1.000 9 99149250 missense variant T/C;G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
dbSNP: rs1057524497
rs1057524497
TGFBR1
1.000 9 99138017 stop gained G/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1060502040
rs1060502040
TGFBR1
1.000 9 99132634 stop gained C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs111426349
rs111426349
TGFBR1
0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0