Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs7528684 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 13 | ||
rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
rs766333007 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 8 | ||
rs3024496 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 6 | ||
rs7521902 | 1.000 | 0.040 | 1 | 22164231 | intergenic variant | C/A | snv | 0.22 | 4 | ||
rs10917151 | 0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 | 3 | ||
rs12037376 | 0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 | 3 | ||
rs2235529 | 1.000 | 0.040 | 1 | 22123994 | intron variant | C/T | snv | 0.13 | 3 | ||
rs12030576 | 1.000 | 0.040 | 1 | 115274600 | intron variant | G/C;T | snv | 2 | |||
rs3820282 | 0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 | 2 | ||
rs3920498 | 1.000 | 0.040 | 1 | 22166394 | intergenic variant | G/C | snv | 0.19 | 2 | ||
rs16826658 | 1.000 | 0.040 | 1 | 22159378 | downstream gene variant | T/G | snv | 0.32 | 1 | ||
rs200922190 | 1.000 | 0.040 | 1 | 193234361 | intron variant | -/ATAATT | delins | 0.16 | 1 | ||
rs3820445 | 1.000 | 0.040 | 1 | 48758912 | missense variant | G/A;T | snv | 1 | |||
rs4654783 | 1.000 | 0.040 | 1 | 22113027 | downstream gene variant | T/C | snv | 0.70 | 1 | ||
rs55938609 | 1.000 | 0.040 | 1 | 22143958 | 5 prime UTR variant | G/C | snv | 0.13 | 1 | ||
rs7515106 | 1.000 | 0.040 | 1 | 22146917 | intron variant | T/C | snv | 0.30 | 1 | ||
rs777161444 | 1.000 | 0.040 | 1 | 150817123 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs9434741 | 1.000 | 0.040 | 1 | 6157799 | intron variant | A/G | snv | 0.26 | 1 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 |