POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: dowling-degos disease ×
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: rs886041033
rs886041033 		0.925 0.080 20 32216660 frameshift variant A/- delins
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013