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: 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: 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: rs104893816
rs104893816 		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 		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
dbSNP: rs727504292
rs727504292 		0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2005 2013
dbSNP: rs780542125
rs780542125 		1.000 0.120 3 30671752 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2013 2017
dbSNP: rs869025537
rs869025537 		1.000 0.120 3 30672235 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 3 2009 2013
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
dbSNP: rs397516840
rs397516840 		1.000 0.120 3 30688482 stop gained 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 2 2006 2006
dbSNP: rs727503476
rs727503476 		1.000 0.120 3 30691475 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 0.700 1.000 2 2006 2013
dbSNP: rs863223857
rs863223857 		1.000 0.120 3 30672085 missense variant A/G 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 2013 2017
dbSNP: rs886039106
rs886039106 		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: 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: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C 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 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0239815
Disease: Hand clenching
Hand clenching 		0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17838698
rs17838698 		1.000 0.080 3 30643415 intron variant C/T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3773643
rs3773643 		3 30668751 intron variant A/G snv 0.19
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2007 2007
dbSNP: rs3773643
rs3773643 		3 30668751 intron variant A/G snv 0.19
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2007 2007