DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
Disease: Bronchiectasis ×
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: rs730882242
rs730882242 		0.807 0.280 5 141573518 stop gained G/A snv
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016