Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3758653 1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs749457448 1.000 0.200 X 70452622 start lost A/G snv 2
rs796053290 0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2
rs869312674 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 2
rs878853148 1.000 0.200 X 54002150 splice region variant C/G snv 1
rs724159950 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs1569146649 1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs267608383 1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 2
rs398123561 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs869025287 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs1555910048 1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs1562928193 1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs878853142 1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs878853146 1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 1
rs878853151 1.000 0.200 X 53211601 frameshift variant -/A delins 1
rs878853152 1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs4846049 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs372949028 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs1569161831 1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs199516560 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 5
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs61749735 0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 3
rs10410239 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614