Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5063 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 12 | |
rs11221332 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 13 | |||
rs4129267 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 13 | |||
rs562962093 | 0.742 | 0.520 | 10 | 52771740 | upstream gene variant | T/C | snv | 7.0E-06 | 13 | ||
rs2397084 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 14 | |
rs72661131 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 15 | ||
rs3197999 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 16 | |
rs12232497 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 18 | ||
rs174535 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 19 | |
rs4696480 | 0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 | 19 | ||
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2066844 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 54 | |
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 |