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 | 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 | 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 |