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: rs4244285
rs4244285
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.030 1.000 3 2018 2019
dbSNP: rs4986893
rs4986893
5 0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03 0.020 1.000 2 2018 2019
dbSNP: rs1187513719
rs1187513719
4 0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019