rs757533393, 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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 20 32216664 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2018 2018
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 1.000 20 32216664 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2018 2018