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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 25 | ||
rs1047840 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 19 | |
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 16 | |||
rs1256046734 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs4645978 | 0.827 | 0.120 | 1 | 15525539 | intron variant | C/A;T | snv | 8 | |||
rs1454328441 | 0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 | 6 | ||
rs201701502 | 0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 | 5 | |
rs2273953 | 0.851 | 0.120 | 1 | 3682336 | 5 prime UTR variant | G/A;T | snv | 0.20; 3.3E-04 | 5 | ||
rs765660823 | 0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 | 4 | ||
rs144594252 | 0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 | 3 | |
rs267598140 | 0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv | 3 | |||
rs1047325 | 1.000 | 0.040 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 | 2 | |
rs115169993 | 1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 | 1 | |
rs2298211 | 1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 | 1 | |
rs532172691 | 1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 | 1 | |
rs4299376 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 11 | |||
rs3087386 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 8 | |
rs3087399 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 4 |