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: rs104893807
rs104893807
0.925 0.120 3 30674196 missense variant C/G;T snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893809
rs104893809
0.882 0.120 3 30691504 missense variant C/T snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893810
rs104893810
0.790 0.360 3 30691477 missense variant C/T snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893811
rs104893811
0.851 0.160 3 30674228 missense variant C/T snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893812
rs104893812
1.000 0.120 3 30672189 missense variant T/A;G snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893813
rs104893813
1.000 0.120 3 30672246 missense variant G/A;C;T snv 8.2E-06; 8.2E-06
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893814
rs104893814
1.000 0.120 3 30672252 missense variant G/T snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893815
rs104893815
0.851 0.240 3 30691478 missense variant G/A snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893816
rs104893816
0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs28934568
rs28934568
1.000 0.120 3 30672106 missense variant T/C snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs1553630274
rs1553630274
1.000 0.120 3 30672313 missense variant A/G snv
Aortic aneurysm, familial thoracic 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 10 2004 2012
dbSNP: rs104893811
rs104893811
0.851 0.160 3 30674228 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 9 2005 2016
dbSNP: rs104893815
rs104893815
0.851 0.240 3 30691478 missense variant G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 7 2005 2014
dbSNP: rs886039551
rs886039551
0.882 0.120 3 30674186 missense variant G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 7 2006 2014
dbSNP: rs104893810
rs104893810
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 6 2005 2013
dbSNP: rs104893819
rs104893819
0.827 0.240 3 30688470 stop gained C/G;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 6 2006 2016
dbSNP: rs1553630221
rs1553630221
1.000 3 30672234 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 2005 2016
dbSNP: rs1553630221
rs1553630221
1.000 3 30672234 missense variant G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2005 2016
dbSNP: rs104893819
rs104893819
0.827 0.240 3 30688470 stop gained C/G;T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 5 2004 2012
dbSNP: rs863223852
rs863223852
0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 5 2004 2017
dbSNP: rs104893809
rs104893809
0.882 0.120 3 30691504 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 4 2004 2011
dbSNP: rs104893810
rs104893810
0.790 0.360 3 30691477 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 4 2005 2012
dbSNP: rs104893816
rs104893816
0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 4 2005 2011
dbSNP: rs12493607
rs12493607
0.882 0.080 3 30641447 intron variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 4 2013 2017
dbSNP: rs1553631693
rs1553631693
1.000 3 30688383 splice acceptor variant G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 4 2006 2010