Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2740210 0.827 0.120 20 3072609 downstream gene variant C/A snv 0.28 7
rs7766029 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 7
rs2572431 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 2
rs4813627 1.000 0.040 20 3074867 downstream gene variant A/G snv 0.51 2
rs1826787 1.000 0.040 10 105908635 downstream gene variant C/T snv 0.16 1
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs1799964 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 47
rs6311 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 41
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs4570625 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 25
rs1800955 0.827 0.160 11 636784 upstream gene variant T/C;G snv 8
rs2180619 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 3
rs12484971 1.000 0.040 22 41043300 upstream gene variant A/T snv 0.25 1
rs28426374 1.000 0.040 14 74880037 upstream gene variant C/T snv 0.51 1
rs4937872 1.000 0.040 11 112956992 upstream gene variant A/G;T snv 1
rs75195552 1.000 0.040 17 63446864 upstream gene variant G/A snv 0.17 1
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs1555206402 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1085308056 0.851 0.160 10 87957850 splice region variant C/G snv 8
rs2235632 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 3
rs57875989 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 7
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1555462347 0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1555640521 0.790 0.320 18 6942110 frameshift variant A/- delins 15