Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs1047325 | 1.000 | 0.040 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 | 2 | |
rs532172691 | 1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 | 1 | |
rs1454328441 | 0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 | 6 | ||
rs4645978 | 0.827 | 0.120 | 1 | 15525539 | intron variant | C/A;T | snv | 8 | |||
rs9383064 | 1.000 | 0.040 | 6 | 15535090 | intron variant | G/C | snv | 0.24 | 1 | ||
rs181696 | 0.925 | 0.080 | 3 | 155548315 | intron variant | T/C | snv | 0.55 | 3 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 33 | ||
rs144594252 | 0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 | 3 | |
rs115169993 | 1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 | 1 | |
rs201701502 | 0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 | 5 | |
rs267598140 | 0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv | 3 | |||
rs765660823 | 0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 | 4 | ||
rs11134527 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 24 | ||
rs10810657 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 7 | |||
rs74664507 | 1.000 | 0.040 | 9 | 16913838 | upstream gene variant | T/A | snv | 3 | |||
rs879576 | 1.000 | 0.040 | 22 | 17108356 | missense variant | G/A;C | snv | 0.11 | 1 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 44 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs1607237 | 1.000 | 0.040 | 3 | 179232509 | intron variant | C/T | snv | 0.68 | 1 | ||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 31 | ||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs1799930 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 17 |