Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs1137100 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs4846049 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs3740393 0.776 0.280 10 102876898 intron variant G/C;T snv 10
rs1476413 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs710218 0.882 0.280 1 42961547 intron variant T/A snv 0.38 5
rs7560488 0.851 0.160 2 25345952 upstream gene variant T/C snv 0.40 4
rs1303000329 0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06 4
rs12121543 0.851 0.240 1 11794614 intron variant C/A snv 0.21 4
rs2070424 0.851 0.200 21 31667007 non coding transcript exon variant A/G snv 0.13 4
rs786204030 0.882 0.080 1 11791276 stop gained C/T snv 3
rs1563593163 0.925 0.080 8 13099960 stop gained G/A snv 2
rs374628070 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 2
rs1565818580 0.925 0.080 10 32908395 frameshift variant -/T delins 2
rs745579533
SP1
0.925 0.080 12 53382768 missense variant C/T snv 2
rs13908 1.000 0.080 11 72218687 missense variant A/G snv 1
rs7925545 1.000 0.080 11 72134495 intron variant A/G snv 8.4E-02 1
rs7926875 1.000 0.080 11 72138396 intron variant C/A snv 6.9E-02 1
rs7926987 1.000 0.080 11 72138457 intron variant C/G;T snv 1
rs1888530 1.000 0.080 21 45516509 intron variant C/T snv 0.50 1
rs3788200 1.000 0.080 21 45536657 intron variant A/G snv 0.54 1
rs2229682 1.000 0.080 1 42929964 synonymous variant C/G;T snv 4.0E-06; 0.18 1
rs17847972 1.000 0.080 12 7924406 splice region variant C/T snv 1