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: 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: 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: rs193922660
rs193922660
1.000 0.107 3 30672334 missense variant A/G snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2006 2006
dbSNP: rs587782979
rs587782979
1.000 0.107 3 30674232 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 1 2006 2006
dbSNP: rs727503475
rs727503475
1.000 0.107 3 30688512 splice donor 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 1 2013 2013
dbSNP: rs876658120
rs876658120
1.000 0.107 3 30691441 inframe deletion GACGTTGACTGAG/G in-del
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2013 2013
dbSNP: rs104893819
rs104893819
0.923 0.107 3 30688470 stop gained C/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 0
dbSNP: rs193922664
rs193922664
0.923 0.107 3 30691435 missense variant T/C snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922665
rs193922665
1.000 0.107 3 30650316 stop gained C/A,T snp 4.0E-06; 1.2E-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 0
dbSNP: rs727504421
rs727504421
1.000 0.107 3 30691465 missense variant G/A,T snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs730880224
rs730880224
1.000 0.107 3 30674127 missense variant C/A,T snp
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs61762550
rs61762550
1.000 0.107 3 30671760 missense variant C/A,T snp 4.0E-06; 1.2E-04 1.9E-04
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017