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: rs10212320
rs10212320 		3 30632373 non coding transcript exon variant C/T snv 7.2E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10212320
rs10212320 		3 30632373 non coding transcript exon variant C/T snv 7.2E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1036095
rs1036095 		1.000 0.040 3 30620836 intron variant C/G snv 0.72
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs104893807
rs104893807 		0.925 0.120 3 30674196 missense variant C/G;T snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104893807
rs104893807 		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: rs104893809
rs104893809 		0.882 0.120 3 30691504 missense variant C/T snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2004 2011
dbSNP: rs104893809
rs104893809 		0.882 0.120 3 30691504 missense variant C/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
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: rs104893810
rs104893810 		0.790 0.360 3 30691477 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 4 2005 2012
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893811
rs104893811 		0.851 0.160 3 30674228 missense variant C/T snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
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: rs104893811
rs104893811 		0.851 0.160 3 30674228 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 0.010 1.000 1 2017 2017
dbSNP: rs104893811
rs104893811 		0.851 0.160 3 30674228 missense variant C/T snv
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs104893812
rs104893812 		1.000 0.120 3 30672189 missense variant T/A;G snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2005 2014
dbSNP: rs104893815
rs104893815 		0.851 0.240 3 30691478 missense variant G/A 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 2 2005 2006