POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: Blood Protein Measurement ×
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: rs35968884
rs35968884 		20 32231020 missense variant G/A snv 2.0E-03 1.8E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs76143353
rs76143353 		20 32227952 intron variant C/T snv 4.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018