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: rs1554809253
rs1554809253
1.000 0.080 9 127818223 frameshift variant G/- delins
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0