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: rs1078985
rs1078985 		0.925 0.080 3 30649419 intron variant A/G snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
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: rs9838771
rs9838771 		3 30657290 intron variant G/A snv 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs886039551
rs886039551 		0.882 0.120 3 30674186 missense variant G/A 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 0.700 0
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: rs104893819
rs104893819 		0.827 0.240 3 30688470 stop gained C/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 6 2006 2016
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: 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: 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: rs587782979
rs587782979 		1.000 0.120 3 30674232 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 1 2006 2006
dbSNP: rs61762550
rs61762550 		1.000 0.120 3 30671760 missense variant C/A;T snv 4.0E-06; 1.2E-04
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: rs193922660
rs193922660 		1.000 0.120 3 30672334 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 0
dbSNP: rs193922664
rs193922664 		0.925 0.120 3 30691435 missense variant T/C snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs193922665
rs193922665 		1.000 0.120 3 30650316 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503475
rs727503475 		0.882 0.120 3 30688512 splice donor variant G/A;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503477
rs727503477 		0.925 0.120 3 30691486 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 0
dbSNP: rs727504421
rs727504421 		0.882 0.160 3 30691465 missense variant G/A;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880224
rs730880224 		1.000 0.120 3 30674127 missense variant C/A;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs79375991
rs79375991 		1.000 0.120 3 30650380 frameshift variant A/-;AA delins
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs2228048
rs2228048 		0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs744751
rs744751 		1.000 0.040 3 30694445 upstream gene variant G/A snv 0.23
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2011 2011