| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1302295057 | 0.925 | 0.040 | 7 | 55201284 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs11977660 | 1.000 | 0.040 | 7 | 55094643 | intron variant | T/C | snv | 0.42 | 1 | ||
| rs755356995 | 1.000 | 0.040 | 7 | 55173039 | missense variant | T/C | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs12718945 | 1.000 | 0.040 | 7 | 55125270 | intron variant | T/G | snv | 0.51 | 1 | ||
| rs845552 | 1.000 | 0.040 | 7 | 55177814 | intron variant | A/G | snv | 0.43 | 1 | ||
| rs3752651 | 1.000 | 0.040 | 7 | 55161850 | intron variant | T/C | snv | 0.15 | 1 | ||
| rs121913438 | 1.000 | 0.040 | 7 | 55174777 | inframe deletion | TAAGAGAAGCAACATCTC/- | del | 1 | |||
| rs533525993 | 1.000 | 0.040 | 7 | 55165435 | splice region variant | C/T | snv | 2.4E-04 | 5.6E-05 | 1 | |
| rs17290301 | 1.000 | 0.040 | 7 | 55173189 | intron variant | G/A | snv | 2.0E-02 | 1 | ||
| rs764290273 | 1.000 | 0.040 | 7 | 55165394 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs1171516758 | 1.000 | 0.040 | 7 | 55142377 | synonymous variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs201061916 | 1.000 | 0.040 | 7 | 55165388 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs771398183 | 1.000 | 0.040 | 7 | 55156554 | missense variant | G/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs397517126 | 1.000 | 0.040 | 7 | 55191746 | missense variant | T/G | snv | 1 | |||
| rs12718939 | 1.000 | 0.040 | 7 | 55037627 | intron variant | A/G | snv | 0.75 | 1 | ||
| rs845561 | 1.000 | 0.040 | 7 | 55185015 | intron variant | C/T | snv | 0.76 | 1 | ||
| rs1256743514 | 1.000 | 0.040 | 7 | 55191728 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
| rs6970262 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 1 | ||
| rs371228501 | 1.000 | 0.040 | 7 | 55191740 | missense variant | C/T | snv | 6.8E-05 | 1.2E-04 | 1 | |
| rs1057519861 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 15 | |||
| rs146795390 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 7 | |
| rs1389500636 | 0.827 | 0.080 | 7 | 55156796 | missense variant | G/A | snv | 6 | |||
| rs149840192 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 5 | |||
| rs1057519860 | 0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv | 5 | |||
| rs377444977 | 0.882 | 0.080 | 7 | 55143443 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 5 |