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: rs1060505029
rs1060505029
5 0.882 0.240 1 109066220 missense variant A/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1060505030
rs1060505030
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.800 1.000 1 2017 2017