| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057941 | 0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 | 18 | ||
| rs11119608 | 0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 | 17 | ||
| rs186507655 | 0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 | 17 | ||
| rs2974935 | 0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv | 17 | |||
| rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 6 | |
| rs58722170 | 0.925 | 0.120 | 1 | 37630749 | intron variant | G/C | snv | 0.20 | 2 | ||
| rs12025262 | 1.000 | 0.120 | 1 | 247193430 | intron variant | G/A;C;T | snv | 1 | |||
| rs12031579 | 1.000 | 0.120 | 1 | 119307920 | intron variant | G/A | snv | 6.8E-02 | 1 | ||
| rs12117623 | 1.000 | 0.120 | 1 | 172072640 | intron variant | C/A | snv | 0.25 | 1 | ||
| rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 1 | ||
| rs3737787 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 1 | ||
| rs63751207 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 5 | ||
| rs63750843 | 0.925 | 0.240 | 2 | 47410235 | stop gained | C/G;T | snv | 1.6E-05 | 4 | ||
| rs63751411 | 0.925 | 0.240 | 2 | 47471041 | stop gained | G/A;T | snv | 4 | |||
| rs2072590 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 3 | |||
| rs6755777 | 0.882 | 0.120 | 2 | 176178498 | non coding transcript exon variant | T/A;G | snv | 3 | |||
| rs711830 | 0.882 | 0.120 | 2 | 176172583 | 3 prime UTR variant | A/C;G;T | snv | 0.76 | 3 | ||
| rs1114167776 | 1.000 | 0.120 | 2 | 47791020 | frameshift variant | -/T | delins | 2 | |||
| rs2165109 | 0.925 | 0.120 | 2 | 111061081 | intron variant | A/C | snv | 0.25 | 2 | ||
| rs1558521605 | 1.000 | 0.120 | 2 | 47478328 | stop gained | -/GTAG | ins | 1 | |||
| rs1558656674 | 1.000 | 0.120 | 2 | 47796010 | inframe deletion | AATTGGCAG/- | delins | 1 | |||
| rs1558661873 | 1.000 | 0.120 | 2 | 47799474 | frameshift variant | AAAGATGGCACATATATCCAAGTATGATA/- | del | 1 | |||
| rs1558664251 | 1.000 | 0.120 | 2 | 47800084 | frameshift variant | -/C | ins | 1 | |||
| rs1558666905 | 1.000 | 0.120 | 2 | 47800819 | stop gained | G/T | snv | 1 | |||
| rs1559423185 | 1.000 | 0.120 | 2 | 214780560 | missense variant | C/A | snv | 1 |