Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587781262 0.882 0.240 X 107640938 missense variant A/G snv 6
rs587781263 0.925 0.240 X 107650000 missense variant G/T snv 5
rs3750898 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 2
rs104894351 0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs104894345 0.827 0.080 12 119187080 missense variant G/C;T snv 6
rs119103263 0.827 0.240 1 11992659 missense variant C/T snv 19
rs143473232 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 3
rs12568757 1 150757317 intron variant G/A snv 0.42 2
rs104894619 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 9
rs879253863 0.925 0.160 4 153324126 missense variant A/C snv 4
rs3887412 16 16081173 intron variant A/T snv 0.25 2
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 5
rs17183814 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 7
rs6746030 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 16
rs1474642 6 170543473 intron variant A/G snv 0.13 2
rs6552496 4 181371930 intergenic variant C/A snv 0.52 2
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs1418474769 1.000 0.080 1 228157761 start lost G/T snv 3
rs397515323 0.851 0.080 X 24503479 missense variant G/A snv 7
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs3811463 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1801198 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26