SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863223740
rs863223740 		1.000 15 67181385 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 8 1999 2019
dbSNP: rs387906850
rs387906850 		0.925 15 67181441 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 2 2011 2015
dbSNP: rs768713596
rs768713596 		1.000 15 67164965 stop gained C/T snv 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2014
dbSNP: rs863223754
rs863223754 		1.000 15 67184843 frameshift variant -/C delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2014
dbSNP: rs1566999423
rs1566999423 		1.000 15 67181318 frameshift variant -/GACA delins
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: rs1566999601
rs1566999601 		1.000 15 67181430 missense variant T/A 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: rs1566999610
rs1566999610 		1.000 15 67181433 missense variant A/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: rs886039177
rs886039177 		1.000 15 67187446 missense variant A/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: rs1060500770
rs1060500770 		1.000 15 67184755 frameshift variant -/GG delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1060500771
rs1060500771 		1.000 15 67166854 splice donor 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: rs1060500773
rs1060500773 		1.000 15 67165278 frameshift variant CACAC/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555405108
rs1555405108 		1.000 15 67066289 frameshift variant G/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555412069
rs1555412069 		1.000 15 67164930 frameshift variant -/G delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555412070
rs1555412070 		1.000 15 67164933 frameshift variant -/GC delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566999621
rs1566999621 		1.000 15 67181433 frameshift variant AGCTGACACGGAGA/- del
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1567002059
rs1567002059 		1.000 15 67184815 frameshift variant TAACCAGCGCTAT/GACACC delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1567002115
rs1567002115 		1.000 15 67184864 stop gained G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs745672741
rs745672741 		1.000 15 67165247 splice region variant G/A;C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs753486471
rs753486471 		1.000 15 67181379 stop gained C/A;T snv 1.2E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs757106110
rs757106110 		1.000 15 67187457 stop gained C/A;T snv 5.2E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs863223750
rs863223750 		1.000 15 67066236 stop gained G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs863223761
rs863223761 		1.000 15 67181455 splice donor variant T/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0