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
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
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
rs429358 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs727502818 0.790 0.160 11 17772053 missense variant G/A snv 26
rs57095329 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25
rs3219489 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 24
rs6721961 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 24
rs148881970 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs555145190 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1555939456 0.851 0.200 X 20187956 missense variant T/C snv 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20