ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
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: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.700 0