Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs55705857 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 16 | ||
rs4295627 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 11 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2243248 | 0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv | 9 | |||
rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs28357681 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 4 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1320938886 | 0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
rs12645561 | 0.882 | 0.120 | 4 | 177339718 | intron variant | C/A;T | snv | 3 | |||
rs1161136341 | 0.925 | 0.080 | 7 | 18591621 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs774238794 | 0.925 | 0.080 | 7 | 18644690 | missense variant | G/A;T | snv | 4.1E-05; 4.1E-06 | 2 | ||
rs2904551 | 0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 | 8 | |
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs371854396 | 1.000 | 0.040 | 1 | 20638098 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 | 1 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs11554137 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 13 | |
rs11515 | 0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 | 6 | ||
rs1210653597 | 0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv | 2 | |||
rs1453633223 | 0.807 | 0.080 | 9 | 21974503 | missense variant | C/T | snv | 4.0E-06 | 6 |