POGLUT1, protein O-glucosyltransferase 1, 56983

N. diseases: 36; N. variants: 8
Disease: DOWLING-DEGOS DISEASE 4 ×
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: rs1454300079
rs1454300079 		1.000 3 119480103 missense variant G/A snv 7.0E-06
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0
dbSNP: rs587777293
rs587777293 		1.000 3 119469032 stop gained G/A;T snv 4.3E-06; 4.3E-06
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0
dbSNP: rs587777294
rs587777294 		1.000 3 119486846 stop gained C/T snv 2.4E-05 1.4E-05
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0
dbSNP: rs587777295
rs587777295 		1.000 3 119490549 splice acceptor variant A/C snv 4.0E-06 7.0E-06
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0
dbSNP: rs587777296
rs587777296 		1.000 3 119490586 frameshift variant -/C delins
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0
dbSNP: rs587777297
rs587777297 		1.000 3 119490588 missense variant C/T snv 1.6E-05
CUI: C3810313
Disease: DOWLING-DEGOS DISEASE 4
DOWLING-DEGOS DISEASE 4 		0.700 0