Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 28 | ||
rs3218716 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 17 | ||
rs1805124 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 16 | |
rs45546039 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 15 | ||
rs60682848 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 11 | ||
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 7 | ||
rs121909374 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 7 | ||
rs869178171 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 7 | |||
rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 6 | |||
rs199476317 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 6 | |||
rs267598596 | 0.827 | 0.120 | 1 | 40818164 | missense variant | G/A | snv | 5 | |||
rs397516059 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 5 | ||
rs104894501 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs869248137 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 4 | ||
rs61661343 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 4 | |||
rs397516165 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 4 | |||
rs267607004 | 0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs104894505 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 4 | |||
rs758264780 | 0.882 | 0.040 | 15 | 63044029 | frameshift variant | G/- | delins | 4 | |||
rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs727504237 | 0.882 | 0.080 | 14 | 23428529 | missense variant | G/T | snv | 3 | |||
rs727504801 | 0.925 | 0.080 | 3 | 38560397 | frameshift variant | G/- | delins | 3 |