Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228146 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 3 | |
rs7222331 | 0.925 | 0.120 | 17 | 40995605 | upstream gene variant | C/T | snv | 0.24 | 3 | ||
rs758130759 | 0.925 | 0.120 | 17 | 37699149 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 3 | |
rs1137933 | 0.882 | 0.160 | 17 | 27778906 | synonymous variant | G/A | snv | 0.20 | 0.21 | 4 | |
rs1532624 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 12 | ||
rs2779248 | 0.882 | 0.160 | 17 | 27800806 | intron variant | T/C | snv | 0.39 | 4 | ||
rs1056534 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 5 | ||
rs1143770 | 0.882 | 0.200 | 11 | 122146890 | intron variant | C/T | snv | 0.53 | 4 | ||
rs11915160 | 0.851 | 0.200 | 3 | 181713783 | 3 prime UTR variant | C/A | snv | 0.11 | 5 | ||
rs1332629192 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 7 | |||
rs2268388 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 6 | ||
rs5030718 | 0.827 | 0.200 | 9 | 117713548 | stop gained | G/A;T | snv | 3.1E-03; 8.0E-06 | 8 | ||
rs5030717 | 0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 | 9 | ||
rs7756992 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 12 | |||
rs1800783 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 7 | |||
rs290487 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 10 | ||
rs3918188 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 10 | |||
rs17300539 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 11 | ||
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 | ||
rs660339 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 24 | |
rs759853 | 0.827 | 0.320 | 7 | 134459206 | non coding transcript exon variant | G/A | snv | 0.33 | 6 | ||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs11771443 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 8 | ||
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 26 | |
rs10811661 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 22 |