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: rs334353
rs334353 		1.000 0.040 9 99146083 intron variant T/G snv 0.25
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 2 2013 2019
dbSNP: rs111426349
rs111426349 		0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 13 2005 2017
dbSNP: rs121918710
rs121918710 		1.000 0.120 9 99142683 missense variant T/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs121918711
rs121918711 		1.000 0.120 9 99146553 missense variant A/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs121918712
rs121918712 		1.000 0.120 9 99137883 missense variant C/T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 7 2011 2017
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 6 2005 2012
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/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 7 2006 2015
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2005 2012
dbSNP: rs111426349
rs111426349 		0.882 0.120 9 99149252 missense variant C/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 6 2006 2016
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;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 6 2006 2012
dbSNP: rs760079636
rs760079636 		1.000 0.120 9 99142664 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 5 2006 2016
dbSNP: rs863223829
rs863223829 		1.000 0.120 9 99137962 inframe deletion AAG/- delins
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 2008 2015
dbSNP: rs111426349
rs111426349 		0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568767
rs11568767 		9 99132990 intron variant C/T snv 3.7E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568767
rs11568767 		9 99132990 intron variant C/T snv 3.7E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568767
rs11568767 		9 99132990 intron variant C/T snv 3.7E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568767
rs11568767 		9 99132990 intron variant C/T snv 3.7E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1554700672
rs1554700672 		1.000 9 99138065 stop gained G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2011 2011