Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757533393
rs757533393
POFUT1
2 1.000 20 32216664 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2018 2018