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: rs2904551
rs2904551
7 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.810 1.000 1 2002 2018
dbSNP: rs1135401891
rs1135401891
6 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018