| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs193922500 | 0.851 | 0.160 | 7 | 117548798 | missense variant | T/C | snv | 2.0E-04 | 4.9E-05 | 5 | |
| rs75527207 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 15 | |
| rs1022113606 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 17 | |
| rs80034486 | 0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 | 9 | |
| rs761711628 | 14 | 94379496 | missense variant | C/A;T | snv | 1.4E-04 | 2.1E-05 | 1 | |||
| rs74551128 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 8 | ||
| rs74767530 | 0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 | 5 | |
| rs778055276 | 3 | 122555701 | missense variant | T/C | snv | 4.4E-05 | 3.5E-05 | 1 | |||
| rs121917834 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 10 | ||
| rs77932196 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 8 | ||
| rs772717932 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
| rs121909005 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 5 | ||
| rs121908757 | 0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
| rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
| rs397508638 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 9 | |||
| rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
| rs17563161 | 0.882 | 0.040 | 5 | 497509 | intron variant | G/A | snv | 0.18 | 4 | ||
| rs7512462 | 0.882 | 0.200 | 1 | 205930467 | intron variant | T/C | snv | 0.38 | 4 | ||
| rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
| rs3788766 | 1.000 | 0.040 | X | 116435671 | upstream gene variant | G/A | snv | 2 | |||
| rs1221395132 | 11 | 612721 | missense variant | C/T | snv | 7.0E-06 | 1 | ||||
| rs764491141 | 19 | 41352886 | synonymous variant | G/A | snv | 1 |