Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10458894 | 11 | 3892042 | intron variant | T/A;C | snv | 1 | |||||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs11466414 | 14 | 75981507 | non coding transcript exon variant | G/A | snv | 4.7E-02 | 1 | ||||
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs12710567 | X | 116170599 | upstream gene variant | T/C | snv | 3.2E-02 | 1 | ||||
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs1319501 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 4 | ||
rs142724505 | 1.000 | 0.080 | 8 | 144080528 | missense variant | G/A | snv | 1.8E-03 | 1.7E-03 | 2 | |
rs1643821 | 6 | 151862416 | intron variant | G/A | snv | 0.46 | 2 | ||||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2016347 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 9 | |||
rs2070584 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 8 | ||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs2074192 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 9 | ||
rs2234681 | 1.000 | 0.040 | 20 | 46008773 | upstream gene variant | ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC | delins | 2 | |||
rs2235543 | 0.925 | 0.080 | 1 | 209687323 | intron variant | T/A;C | snv | 4 | |||
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 30 | |
rs2740574 | 0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 | 12 | ||
rs2779249 | 0.851 | 0.200 | 17 | 27801555 | intron variant | C/A | snv | 0.33 | 7 | ||
rs2881766 | 0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 | 5 |