Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs372587282 | 0.882 | 0.080 | 2 | 8733598 | missense variant | G/A;C | snv | 2.8E-05 | 6 | ||
rs1864182 | 0.827 | 0.120 | 5 | 82253421 | missense variant | C/A;G | snv | 0.59 | 0.47 | 6 | |
rs570613 | 0.925 | 0.080 | 10 | 8064539 | intron variant | C/T | snv | 0.60 | 5 | ||
rs3802604 | 0.882 | 0.200 | 10 | 8060309 | intron variant | G/A | snv | 0.51 | 4 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs1012477 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 8 | ||
rs1800371 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 15 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 34 | |||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 8 | |||
rs779196500 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs587782144 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs397516435 | 0.851 | 0.280 | 17 | 7674945 | stop gained | G/A;C | snv | 4.0E-06 | 6 | ||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs375874539 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 15 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 |