rs886041033, POFUT1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DOWLING-DEGOS DISEASE 2
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
3 0.925 0.080 20 32216660 frameshift variant A/- delins 0.700 0
dowling-degos disease
CUI: C3714534
Disease: dowling-degos disease
7 0.925 0.080 20 32216660 frameshift variant A/- delins 0.010 1.000 1 2013 2013