POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: DOWLING-DEGOS DISEASE 2 ×
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: rs1569152303
rs1569152303 		1.000 20 32215311 stop gained C/T snv
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		0.700 0
dbSNP: rs398123038
rs398123038 		1.000 20 32216609 stop gained G/T snv
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		0.700 0
dbSNP: rs886041033
rs886041033 		0.925 0.080 20 32216660 frameshift variant A/- delins
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		0.700 0