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: rs876657852
rs876657852
LOX ; SRFBP1
0.925 5 122074155 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2016 2016
dbSNP: rs886040966
rs886040966
LOX
0.882 0.040 5 122077861 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 2 2016 2019
dbSNP: rs387906781
rs387906781
MYLK ; MYLK-AS1
0.925 3 123620300 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553808296
rs1553808296
MYLK ; LOC105369194
0.925 0.040 3 123707752 splice donor variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1554799402
rs1554799402
COL5A1
0.925 0.040 9 134785008 missense variant G/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs869025494
rs869025494
NOTCH1
1.000 9 136517851 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs794728677
rs794728677
MYH11 ; NDE1
1.000 16 15721419 splice donor variant -/A delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs730880147
rs730880147
MYH11
1.000 16 15726938 inframe deletion CTT/- delins 4.8E-05 1.4E-05
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: rs267606902
rs267606902
MYH11
0.925 0.080 16 15748092 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555459260
rs1555459260
MYH11
0.925 0.040 16 15838252 start lost T/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507180
rs1553507180
COL3A1
0.925 0.040 2 188988083 frameshift variant C/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507867
rs1553507867
COL3A1 ; MIR3606
0.925 0.040 2 188994066 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs121912923
rs121912923
COL3A1
0.882 0.160 2 188996479 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 0
dbSNP: rs869312034
rs869312034
COL3A1
0.925 0.160 2 189006260 splice donor variant 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: rs770974455
rs770974455
COL5A2
0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553517181
rs1553517181
COL5A2
0.925 0.040 2 189084028 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs727504292
rs727504292
TGFBR2
0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs886039106
rs886039106
TGFBR2
1.000 3 30672361 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2013 2016
dbSNP: rs1553630426
rs1553630426
TGFBR2
1.000 3 30674109 missense variant G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs878854610
rs878854610
TGFBR2
1.000 3 30674121 missense variant A/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs886039551
rs886039551
TGFBR2
0.882 0.120 3 30674186 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2006 2014
dbSNP: rs104893807
rs104893807
TGFBR2
0.925 0.120 3 30674196 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs104893811
rs104893811
TGFBR2
0.851 0.160 3 30674228 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 2005 2016
dbSNP: rs104893816
rs104893816
TGFBR2
0.882 0.120 3 30674229 missense variant G/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 4 2005 2011
dbSNP: rs1553631693
rs1553631693
TGFBR2
1.000 3 30688383 splice acceptor variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2006 2010