ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Pulmonary arterial hypertension ×
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: rs759191907
rs759191907 		0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886039506
rs886039506 		0.882 0.160 9 127829770 stop gained G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0