Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 53
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3816527 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 9
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs763110 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 29
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 118
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs2236338 0.851 0.120 14 24631076 missense variant A/G snv 0.24 0.25 6
rs11539752 0.882 0.120 14 24632383 missense variant G/C snv 0.21 0.26 5
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1360485 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 15
rs2249825 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 22
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs187115 0.695 0.320 11 35154612 intron variant T/C snv 0.37 22
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 106
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 21
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3809865 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 11