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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs301807 | 0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv | 4 | |||
rs301819 | 0.882 | 0.120 | 1 | 8441726 | intron variant | A/G;T | snv | 4 | |||
rs78645479 | 0.851 | 0.120 | 1 | 63322631 | 5 prime UTR variant | C/G;T | snv | 4 | |||
rs78037977 | 0.925 | 0.120 | 1 | 172746562 | upstream gene variant | A/G | snv | 7.9E-02 | 2 | ||
rs16843742 | 1.000 | 0.040 | 1 | 198703170 | intron variant | T/C;G | snv | 1 | |||
rs4908760 | 1.000 | 0.040 | 1 | 8466082 | intron variant | G/A | snv | 0.68 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs2111485 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 17 | ||
rs2234663 | 0.716 | 0.480 | 2 | 113130529 | intron variant | ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC | delins | 14 | |||
rs35652124 | 0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 | 8 | ||
rs231725 | 0.851 | 0.240 | 2 | 203875952 | downstream gene variant | G/A | snv | 0.38 | 4 | ||
rs10200159 | 1.000 | 0.040 | 2 | 55617974 | non coding transcript exon variant | T/C | snv | 0.14 | 1 | ||
rs199559999 | 1.000 | 0.040 | 2 | 191090480 | intron variant | TAC/- | del | 1 | |||
rs41342147 | 1.000 | 0.040 | 2 | 241468173 | missense variant | G/A;T | snv | 0.11; 8.0E-06 | 1 | ||
rs4308124 | 1.000 | 0.040 | 2 | 111252909 | intron variant | T/C | snv | 0.44 | 1 | ||
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs1464510 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 9 | |||
rs13076312 | 1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 | 2 | ||
rs13091753 | 1.000 | 0.040 | 3 | 188396801 | intron variant | G/C;T | snv | 2 |