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: rs12493607
rs12493607
0.923 0.071 3 30641447 intron variant G/C,T snp 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 4 2013 2018
dbSNP: rs121918714
rs121918714
0.923 0.071 3 30691471 missense variant G/C snp
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.710 1.000 1 2000 2000
dbSNP: rs727504292
rs727504292
0.923 0.107 3 30672250 stop lost G/A,C snp 1.6E-05 3.2E-05
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 5 2005 2014
dbSNP: rs104893815
rs104893815
0.846 0.214 3 30691478 missense variant G/A snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 3 2005 2013
dbSNP: rs104893816
rs104893816
0.846 0.107 3 30674229 missense variant G/A snp 4.0E-06
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 3 2006 2006
dbSNP: rs121918715
rs121918715
1.000 0.107 3 30688511 stop gained G/A snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 3 1993 2015
dbSNP: rs397516840
rs397516840
1.000 0.107 3 30688482 stop gained G/T snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 3 2006 2013
dbSNP: rs869025537
rs869025537
1.000 0.107 3 30672235 missense variant G/A snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 3 2009 2014
dbSNP: rs104893807
rs104893807
0.923 0.107 3 30674196 missense variant C/G,T snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2004 2012
dbSNP: rs104893811
rs104893811
0.846 0.143 3 30674228 missense variant C/T snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2003 2006
dbSNP: rs104893815
rs104893815
0.846 0.214 3 30691478 missense variant G/A snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2005 2006
dbSNP: rs104893815
rs104893815
0.846 0.214 3 30691478 missense variant G/A snp
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 2 1999 2005
dbSNP: rs104893815
rs104893815
0.846 0.214 3 30691478 missense variant G/A snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 1999 2005
dbSNP: rs28934568
rs28934568
0.923 0.107 3 30672106 missense variant T/C snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2004 2010
dbSNP: rs28934568
rs28934568
0.923 0.107 3 30672106 missense variant T/C snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2004 2010
dbSNP: rs34833812
rs34833812
1.000 0.143 3 30672127 missense variant C/T snp 1.1E-03 6.4E-04
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 2 1998 2007
dbSNP: rs35766612
rs35766612
3 30672342 missense variant G/A,T snp 1.0E-03; 3.5E-04 1.8E-03; 3.2E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 2 2001 2007
dbSNP: rs10212320
rs10212320
3 30632373 intron variant C/T snp 7.1E-03
Low density lipoprotein cholesterol measurement
0.700 1 2012 2012
dbSNP: rs104893807
rs104893807
0.923 0.107 3 30674196 missense variant C/G,T snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2004 2004
dbSNP: rs104893809
rs104893809
0.923 0.107 3 30691504 missense variant C/T snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2004 2004
dbSNP: rs104893809
rs104893809
0.923 0.107 3 30691504 missense variant C/T snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2004 2004
dbSNP: rs104893810
rs104893810
0.923 0.107 3 30691477 missense variant C/T snp
CUI: C2674876
Disease: LOEYS-DIETZ SYNDROME, TYPE 1B
LOEYS-DIETZ SYNDROME, TYPE 1B
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2005 2005
dbSNP: rs104893810
rs104893810
0.923 0.107 3 30691477 missense variant C/T snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2005 2005
dbSNP: rs104893811
rs104893811
0.846 0.143 3 30674228 missense variant C/T snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2006 2006
dbSNP: rs104893812
rs104893812
0.923 0.107 3 30672189 missense variant T/A snp
Aortic aneurysm, familial thoracic 3
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2005 2005