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 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 16 | |||
rs1553260624 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 14 | |||
rs1215600806 | 0.851 | 0.120 | 1 | 21564100 | missense variant | T/C | snv | 1.2E-05 | 4 | ||
rs1416572796 | 0.851 | 0.120 | 1 | 21568170 | missense variant | G/T | snv | 4.0E-06 | 4 | ||
rs143358506 | 0.851 | 0.120 | 1 | 21560674 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 4 | |
rs59267781 | 0.851 | 0.120 | 1 | 156138657 | missense variant | C/G | snv | 4 | |||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs1872328 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 6 | ||
rs3821204 | 0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 | 6 | ||
rs886041906 | 0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv | 6 | |||
rs2372536 | 0.827 | 0.160 | 2 | 215325297 | missense variant | C/G | snv | 0.33 | 0.25 | 5 | |
rs4150441 | 0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 | 5 | ||
rs4150506 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 4 | ||
rs10208273 | 0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 | 3 | ||
rs231755 | 0.882 | 0.040 | 2 | 203888846 | regulatory region variant | G/C | snv | 0.11 | 3 | ||
rs7591996 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 3 |