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: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs2107595
rs2107595
15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.010 1.000 1 2016 2016