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
rs112630268 1.000 0.120 13 113919624 non coding transcript exon variant -/G ins 1
rs113652681 1.000 0.120 6 33339623 downstream gene variant -/G;TG ins 1
rs373094430 1.000 0.120 6 32622847 TF binding site variant -/C ins 1
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs35761398 0.701 0.520 1 23875429 missense variant TT/CC mnv 19
rs796590326 0.851 0.200 12 121162449 missense variant GT/AC mnv 5
rs17235416 0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 6
rs112300936 1.000 0.120 1 116738074 downstream gene variant C/- del 8.5E-04 1
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs2234663 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs879761216 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 14
rs17860508 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 11
rs5844572 0.752 0.360 22 23893562 intron variant -/ATTC delins 11
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 10
rs34448891 0.925 0.160 2 218381927 upstream gene variant TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG delins 2
rs10683701
OS9
1.000 0.120 12 57698305 intron variant -/ACTT delins 0.61 1
rs11439060 1.000 0.120 4 87975555 non coding transcript exon variant -/G delins 1
rs201386475 1.000 0.120 6 32668286 5 prime UTR variant -/CA delins 1
rs397897657 1.000 0.120 21 44230126 intron variant -/G delins 1.7E-04 1
rs56323213 1.000 0.120 21 44230126 intron variant -/G delins 1
rs574503121 1.000 0.120 6 33090337 downstream gene variant -/ATTT delins 4.3E-04 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262