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: rs587776769
rs587776769 		1.000 0.160 3 30691490 frameshift variant -/TG delins
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic 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: rs104893817
rs104893817 		1.000 0.120 3 30674123 missense variant A/C;G 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 0
dbSNP: rs1553630274
rs1553630274 		1.000 0.120 3 30672313 missense variant A/G 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 10 2004 2012
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: 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: rs1078985
rs1078985 		0.925 0.080 3 30649419 intron variant A/G snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17025857
rs17025857 		1.000 0.080 3 30639603 intron variant A/G snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1962859
rs1962859 		1.000 0.080 3 30656417 intron variant A/G snv 0.16
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
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
dbSNP: rs3773651
rs3773651 		1.000 0.040 3 30677040 intron variant A/G snv 3.9E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9823731
rs9823731 		1.000 3 30641799 intron variant A/G snv 0.66
CUI: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1 		0.010 1.000 1 2014 2014
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: rs587776770
rs587776770 		1.000 0.120 3 30688382 splice acceptor variant A/G 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 0
dbSNP: rs1155705
rs1155705 		1.000 0.040 3 30644922 splice region variant A/G;T snv 0.37
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 < 0.001 1 2014 2014
dbSNP: rs878854610
rs878854610 		1.000 3 30674121 missense variant A/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs761231369
rs761231369 		1.000 0.120 3 30671923 missense variant A/T snv 8.0E-06 1.4E-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 10 2004 2012
dbSNP: rs876658120
rs876658120 		1.000 0.160 3 30691437 inframe deletion ACGTTGACTGAG/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs2276767
rs2276767 		1.000 0.160 3 30691329 intron variant C/A snv 0.23
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs863223852
rs863223852 		0.882 0.120 3 30688476 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 5 2004 2017
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