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
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs6313 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs875989800 0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1553920379 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs5918 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 26
rs6296 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 23
rs63750756 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs148881970 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21