Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2272125 | 1.000 | 0.080 | 3 | 10096385 | synonymous variant | T/G | snv | 0.18 | 0.25 | 1 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 103 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs7350 | 1.000 | 0.080 | 11 | 119094338 | 3 prime UTR variant | G/A | snv | 0.30 | 1 | ||
rs7759 | 0.882 | 0.080 | 11 | 119096581 | 3 prime UTR variant | A/G | snv | 0.30 | 3 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs1801132 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 22 | |
rs2228480 | 0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 | 16 | |
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs587782555 | 0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 | 3 | ||
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 17 | |
rs182176585 | 1.000 | 0.080 | 13 | 41372227 | missense variant | G/A;C | snv | 1.3E-04; 4.3E-06 | 1 | ||
rs730881500 | 0.882 | 0.080 | 17 | 43045769 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
rs11655505 | 0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 | 8 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs1351211430 | 0.851 | 0.120 | 19 | 45369118 | synonymous variant | G/A;C | snv | 8.0E-06 | 4 | ||
rs3212964 | 0.851 | 0.120 | 19 | 45417538 | intron variant | C/T | snv | 0.18 | 4 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs775144154 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 38 |