Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs748289455 1.000 0.080 10 73647532 frameshift variant -/A ins 1.4E-05 1
rs140226130 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 8
rs767910122 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs1202891821 1.000 0.080 7 150947849 frameshift variant -/TTGG ins 1
rs1333048 0.683 0.320 9 22125348 intron variant A/C snv 0.44 24
rs2980853 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 16
rs3745297
HRC
0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 10
rs1273246817 0.882 0.080 1 237784169 missense variant A/C snv 3
rs1555896778 0.925 0.080 20 62473504 missense variant A/C snv 2
rs13191450 1.000 0.080 6 122070990 intergenic variant A/C snv 0.28 1
rs2860482 1.000 0.080 12 56712154 downstream gene variant A/C snv 0.80 1
rs35620480 1.000 0.080 8 11642399 upstream gene variant A/C snv 0.11 1
rs4951261 1.000 0.080 1 205748695 intron variant A/C snv 0.34 1
rs8088085 1.000 0.080 18 51182178 intron variant A/C snv 0.36 1
rs220733 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 3
rs147301839 1.000 0.080 15 57632516 missense variant A/C;G snv 3.5E-03; 1.2E-05 1
rs210632 1.000 0.080 6 117559179 intron variant A/C;G snv 1
rs520525 1.000 0.080 1 170669192 non coding transcript exon variant A/C;G snv 1
rs6994744 1.000 0.080 8 140730769 intron variant A/C;G snv 1
rs1046934 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 4
rs1152591 1.000 0.080 14 64214130 intron variant A/C;G;T snv 1
rs1997572 1.000 0.080 7 116558774 intron variant A/C;G;T snv 1
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs762624 0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05 4
rs12992412 1.000 0.080 2 148035096 intron variant A/C;T snv 1