Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs74315364 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 13
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs887303970 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 10
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193