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: rs310619
rs310619
1 1.000 0.040 20 63496168 non coding transcript exon variant G/A snv 0.48 0.010 1.000 1 2020 2020
dbSNP: rs587777162
rs587777162
5 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2017 2017