Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs6676671 0.882 0.160 1 206779403 intron variant T/A snv 0.32 4
rs10494879 0.925 0.120 1 206778859 intron variant C/A;G snv 0.36 3
rs1351687973 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 3
rs2466571 0.925 0.120 1 207766701 intron variant G/T snv 0.46 3
rs535311760 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 3
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs10190751 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs995922697 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 15
rs6773854 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 2
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913105 0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121913485 0.716 0.400 4 1804372 missense variant A/G snv 18
rs2227307 0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs1257715362 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 3