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: rs55641580
rs55641580 		13 24683779 intron variant C/T snv 0.12
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs55641580
rs55641580 		13 24683779 intron variant C/T snv 0.12
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs146053308
rs146053308 		0.925 0.120 13 24690362 missense variant G/A;C snv 2.4E-05; 1.2E-04 7.7E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146053308
rs146053308 		0.925 0.120 13 24690362 missense variant G/A;C snv 2.4E-05; 1.2E-04 7.7E-05
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146486002
rs146486002 		1.000 13 24706437 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2010 2010
dbSNP: rs146927457
rs146927457 		0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146927457
rs146927457 		0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016