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: rs1017086766
rs1017086766
1 1.000 0.080 5 68226779 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1267812755
rs1267812755
1 1.000 0.080 5 68290729 start lost A/G snv 0.010 1.000 1 2019 2019