| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519718 | 0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv | 1 | |||
| rs397516896 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 1 | |||
| rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 11 | ||
| rs121913357 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 2 | |||
| rs756168629 | 1.000 | 0.160 | 2 | 140841050 | missense variant | C/T | snv | 4.8E-05 | 1.4E-05 | 2 | |
| rs61070260 | 1.000 | 0.160 | 2 | 140846426 | intron variant | G/A | snv | 5.7E-02 | 1 | ||
| rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
| rs12374648 | 1.000 | 0.160 | 6 | 151208234 | intron variant | A/G | snv | 0.22 | 1 | ||
| rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 48 | ||
| rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 17 | |||
| rs145738773 | 1.000 | 0.160 | 1 | 15504663 | synonymous variant | G/A | snv | 4.4E-05 | 1.0E-04 | 1 | |
| rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 27 | ||
| rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 | ||
| rs2297480 | 0.851 | 0.280 | 1 | 155309691 | non coding transcript exon variant | T/G | snv | 0.28 | 4 | ||
| rs72773978 | 1.000 | 0.160 | 16 | 15880785 | intron variant | A/T | snv | 8.1E-02 | 1 | ||
| rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 41 | ||
| rs4273077 | 0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 | 2 | ||
| rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 18 | |
| rs1317082 | 0.882 | 0.200 | 3 | 169779797 | non coding transcript exon variant | A/G | snv | 0.21 | 4 | ||
| rs10936602 | 0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 | 2 | ||
| rs12717 | 0.925 | 0.160 | 6 | 170553212 | missense variant | G/C | snv | 0.42 | 0.38 | 2 | |
| rs12621278 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 6 | ||
| rs1400966919 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
| rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 14 | |||
| rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 10 |