Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs352140 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 42
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs35761398 0.701 0.520 1 23875429 missense variant TT/CC mnv 19
rs7096206 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 17
rs368234815 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 15
rs396991 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 14
rs1015164 0.925 3 46410189 intron variant A/C;G;T snv 8
rs535915558 0.827 0.120 12 55958494 missense variant C/T snv 2.0E-05 6
rs10929301 2 233755003 splice region variant C/G;T snv 0.48 4
rs11673726 2 233755414 non coding transcript exon variant G/A;T snv 4
rs10041590 5 24064827 intron variant T/C;G snv 2
rs10892961 11 123093392 intron variant A/C;G;T snv 2
rs11228672 11 56597931 non coding transcript exon variant G/A;C snv 2
rs1461494 11 123055777 downstream gene variant T/A;C snv 2
rs16893073 5 24072508 intron variant C/G;T snv 2
rs17062789 8 1203198 intron variant G/A;C snv 2
rs2243191 1.000 0.040 1 206842612 missense variant T/C;G snv 0.71; 5.5E-06 2
rs34003842 8 1206131 intron variant G/A;C;T snv 2
rs4435343 18 43322011 intergenic variant C/A;T snv 2
rs4802 11 123057914 synonymous variant A/C;G snv 4.1E-06; 0.32 2