Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs10811474 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 11
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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs10719 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2976391
PSCA ; JRK
0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 7
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
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
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs35592567 0.827 0.160 3 189896847 3 prime UTR variant C/G;T snv 6
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30