ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Pulmonary Hypertension, Primary, 1 ×
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: rs1085307436
rs1085307436 		1.000 0.040 9 127815806 missense variant C/A snv
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs142896669
rs142896669 		1.000 0.040 9 127818173 missense variant C/T snv 5.2E-04 3.6E-04
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs150932144
rs150932144 		1.000 0.040 9 127825744 missense variant C/T snv 9.6E-05 3.4E-04
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013