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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.080 0.875 8 2008 2018
dbSNP: rs1549758
rs1549758
7 0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76 0.010 1.000 1 2018 2018
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs743507
rs743507
4 0.882 0.200 7 151010400 intron variant C/T snv 0.77 0.010 1.000 1 2010 2010