Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs9838915 | 0.882 | 0.120 | 3 | 126347377 | intron variant | G/A | snv | 0.19 | 4 | ||
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs499818 | 0.851 | 0.080 | 6 | 13332235 | upstream gene variant | G/A | snv | 0.21 | 4 | ||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs1559279177 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 5 | |||
rs1258130495 | 0.882 | 0.040 | 4 | 147485727 | missense variant | G/A | snv | 3 | |||
rs899115126 | 0.882 | 0.080 | 4 | 147542603 | missense variant | G/C | snv | 3 | |||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs2306235 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 6 | |
rs1800779 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 9 | |||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs398122917 | 0.882 | 0.080 | X | 155280059 | missense variant | G/C | snv | 4.4E-05 | 1.1E-04 | 5 | |
rs56793579 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 5 | |||
rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
rs61661343 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 4 | |||
rs57045855 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 6 | |||
rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 6 | |||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs2149954 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 5 | ||
rs1739843 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 4 |