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: rs1057524497
rs1057524497 		1.000 9 99138017 stop gained G/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1060502040
rs1060502040 		1.000 9 99132634 stop gained C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs111426349
rs111426349 		0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
Abnormal cardiac ventricle morphology 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		Cardiovascular Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
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: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		Stomatognathic Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		Cardiovascular Diseases 0.700 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained 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 0
dbSNP: rs111854391
rs111854391 		0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs121918713
rs121918713 		1.000 0.120 9 99132686 missense variant G/T snv 1.2E-05
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: rs1554701881
rs1554701881 		1.000 9 99144730 splice acceptor variant A/C;G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1554701911
rs1554701911 		1.000 0.120 9 99144816 missense variant 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 0
dbSNP: rs1554701914
rs1554701914 		1.000 0.120 9 99144819 missense variant T/C 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: rs1554702262
rs1554702262 		1.000 9 99146610 splice donor variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1554702463
rs1554702463 		1.000 9 99147701 missense variant G/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0