Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779315943 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs11556218 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs10511729 0.742 0.240 9 23557229 intron variant T/G snv 0.35 11
rs2240688 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 7
rs1924966 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 6
rs353639 0.851 0.120 11 35162817 intron variant T/G snv 0.32 5
rs207454
XDH
0.851 0.120 2 31344766 intron variant T/G snv 0.11 0.16 4
rs2675 0.882 0.120 3 124763266 3 prime UTR variant T/G snv 0.17 4
rs1135354 0.925 0.080 2 102397842 3 prime UTR variant T/G snv 0.23 3
rs10787498 0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38 2
rs384490 0.925 0.080 11 3057655 splice region variant T/G snv 0.46 2
rs579501 0.925 0.080 10 42751347 non coding transcript exon variant T/G snv 5.9E-02 2
rs10509671 1.000 0.080 10 94309297 intron variant T/G snv 0.24 1
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs9297976
JRK ; PSCA
0.790 0.160 8 142670817 intron variant T/C;G snv 7
rs6087990 0.925 0.080 20 32762102 upstream gene variant T/C;G snv 4
rs17109928 0.882 0.080 10 94338336 intron variant T/C;G snv 0.15 3