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: rs886040965
rs886040965 		0.925 0.040 5 122075443 missense variant C/A snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 1.000 2 2016 2016
dbSNP: rs886040967
rs886040967 		0.925 0.040 5 122075482 missense variant T/G snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 1.000 2 2016 2016
dbSNP: rs876657852
rs876657852 		0.925 5 122074155 missense variant A/C snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 0
dbSNP: rs876657852
rs876657852 		0.925 5 122074155 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2016 2016
dbSNP: rs113075218
rs113075218 		1.000 0.040 5 122026055 intron variant T/A snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1561417568
rs1561417568 		1.000 0.040 5 122070581 missense variant A/T snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561420103
rs1561420103 		1.000 0.040 5 122075539 stop gained G/A snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs886040965
rs886040965 		0.925 0.040 5 122075443 missense variant C/A snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs886040967
rs886040967 		0.925 0.040 5 122075482 missense variant T/G snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs2956540
rs2956540 		1.000 0.040 5 122073485 intron variant G/A;C snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 1.000 3 2015 2015
dbSNP: rs10519694
rs10519694 		1.000 0.040 5 122071524 intron variant C/T snv 0.21
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs754284524
rs754284524 		1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs754284524
rs754284524 		1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017