Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10146204 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 2 | ||
rs1018379423 | 1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 4 | |||
rs1052559 | 1.000 | 0.040 | 19 | 45351661 | stop gained | T/A;G | snv | 2 | |||
rs1057519783 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 10 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs112295309 | 1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 | 3 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1174029586 | 5 | 179705693 | missense variant | G/C | snv | 8.2E-06 | 1 | ||||
rs1192694481 | 0.882 | 0.080 | 11 | 102955629 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs12072037 | 0.882 | 0.080 | 1 | 39954534 | upstream gene variant | C/A | snv | 6.1E-02 | 4 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs121913369 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 12 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs1238968510 | 0.882 | 0.080 | 16 | 55479556 | missense variant | A/G;T | snv | 4.1E-06 | 2.1E-05 | 4 | |
rs1242640031 | 17 | 1456106 | missense variant | G/C | snv | 1 | |||||
rs1256061 | 14 | 64236875 | intron variant | G/A;T | snv | 5 | |||||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs1458974438 | 0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv | 9 | |||
rs16906252 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 19 |