SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
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: rs1057518977
rs1057518977 		1.000 0.040 15 67164969 missense variant G/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
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: rs387906853
rs387906853 		0.925 0.040 15 67181297 stop gained G/A;T snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs387906856
rs387906856 		1.000 15 67187436 stop gained G/A;C;T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776880
rs587776880 		1.000 15 67181323 frameshift variant AT/- del
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776881
rs587776881 		1.000 15 67170598 frameshift variant A/- delins
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776882
rs587776882 		1.000 15 67164999 frameshift variant G/- delins
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs730880214
rs730880214 		15 67181442 missense variant G/A snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730880215
rs730880215 		1.000 0.120 15 67181453 stop gained G/A;T snv 4.1E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 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: rs745672741
rs745672741 		1.000 15 67165247 splice region variant G/A;C snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 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
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: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.810 1.000 3 2007 2012