Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs375752214 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 22 | |
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs3851179 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 15 | ||
rs3764650 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 9 | ||
rs363050 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 8 | ||
rs11637611 | 0.851 | 0.160 | 15 | 72259371 | intron variant | C/T | snv | 0.63 | 4 | ||
rs11887120 | 0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 | 4 | ||
rs12752888 | 0.851 | 0.160 | 1 | 54527266 | downstream gene variant | T/C | snv | 0.26 | 4 | ||
rs16947151 | 0.882 | 0.080 | 17 | 49213276 | intron variant | A/G | snv | 0.12 | 4 | ||
rs2070045 | 0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 | 4 | |
rs541458 | 0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 | 4 | ||
rs5978930 | 0.882 | 0.080 | X | 8642266 | intron variant | T/C;G | snv | 4 | |||
rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 4 | ||
rs1187120 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 3 |