Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs1415088003 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 7 | ||
rs1277204441 | 0.925 | 0.080 | 17 | 63479775 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs2074192 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 9 | ||
rs2106809 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 8 | ||
rs755492182 | 0.882 | 0.080 | 1 | 236735677 | missense variant | C/T | snv | 3 | |||
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
rs1801252 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 17 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1050606 | 1.000 | 0.080 | 4 | 121696891 | 5 prime UTR variant | A/C | snv | 0.50 | 2 | ||
rs238234 | 1.000 | 0.080 | 17 | 4980523 | missense variant | C/A;G;T | snv | 5.6E-05; 0.75; 8.1E-06 | 1 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs1333049 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 60 | ||
rs2278239 | 1.000 | 0.080 | 5 | 79737483 | missense variant | A/C;G | snv | 0.14; 2.8E-05 | 1 | ||
rs2073618 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 19 | |
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs1974201 | 1.000 | 0.080 | 6 | 131889981 | intron variant | G/A;C;T | snv | 1 | |||
rs9402349 | 1.000 | 0.080 | 6 | 131863968 | intron variant | A/C | snv | 9.8E-02 | 1 | ||
rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 10 |