Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1410713 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 1 | ||
rs2770381 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 1 | ||
rs775776658 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 1 | ||
rs2282018 | 1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 | 1 | ||
rs6084264 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 1 | ||
rs10139403 | 1.000 | 0.040 | 14 | 100728224 | intron variant | A/G | snv | 0.62 | 1 | ||
rs755498926 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 | 1 | ||
rs1447680989 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs1018185646 | 1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs746913146 | 1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs750931344 | 1.000 | 0.040 | 12 | 46769424 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs534828104 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 2 | |||
rs3738435 | 0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 | 2 | ||
rs373269573 | 0.925 | 0.080 | 9 | 137711015 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 2 | |
rs764437500 | 0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1057524900 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 2 | ||
rs1057524901 | 0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del | 2 | |||
rs1057524906 | 0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv | 2 | |||
rs1064794268 | 0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv | 2 | |||
rs193922262 | 0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 | 2 | ||
rs193922287 | 0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs556581174 | 0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv | 2 | |||
rs104894006 | 0.925 | 0.040 | 7 | 44149992 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs1057524903 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 2 | |||
rs1085307455 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 2 |