| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
| rs8679 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 7 | ||
| rs3219145 | 0.882 | 0.120 | 1 | 226363128 | missense variant | T/C;G | snv | 1.2E-02; 4.0E-06 | 4 | ||
| rs1805404 | 0.882 | 0.200 | 1 | 226402257 | missense variant | G/A;C | snv | 0.22; 4.0E-06 | 3 | ||
| rs3219073 | 0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 | 3 | ||
| rs3738708 | 0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 | 3 | ||
| rs1805407 | 1 | 226402132 | missense variant | T/A;C | snv | 4.1E-06; 0.19 | 2 | ||||
| rs1805414 | 0.925 | 0.080 | 1 | 226385663 | synonymous variant | A/G | snv | 0.43 | 0.42 | 2 | |
| rs2077197 | 0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv | 2 | |||
| rs2230484 | 0.925 | 0.080 | 1 | 226383066 | missense variant | G/A | snv | 3.7E-03 | 3.3E-03 | 2 | |
| rs2271347 | 1.000 | 0.080 | 1 | 226361797 | non coding transcript exon variant | G/A | snv | 0.16 | 2 | ||
| rs3219060 | 1 | 226384782 | intron variant | G/A;T | snv | 2 | |||||
| rs4653734 | 0.925 | 0.080 | 1 | 226407688 | intron variant | C/A;G | snv | 2 | |||
| rs7527192 | 0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 | 2 | ||
| rs907187 | 0.925 | 0.080 | 1 | 226407946 | 5 prime UTR variant | C/G;T | snv | 0.21; 4.1E-06 | 2 | ||
| rs1179299518 | 1.000 | 0.120 | 1 | 226386379 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs139399785 | 1.000 | 0.080 | 1 | 226380111 | stop gained | G/A;T | snv | 4.0E-06; 2.6E-04 | 1 | ||
| rs1805410 | 1.000 | 0.040 | 1 | 226380964 | intron variant | T/C | snv | 0.13 | 1 | ||
| rs1805413 | 1.000 | 0.120 | 1 | 226368136 | intron variant | G/A | snv | 5.5E-03 | 1 | ||
| rs201841505 | 1 | 226392215 | missense variant | A/G | snv | 2.8E-05 | 1 | ||||
| rs3219090 | 1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 | 1 | ||
| rs3219125 | 1.000 | 0.040 | 1 | 226367250 | non coding transcript exon variant | T/C | snv | 5.0E-02 | 1 | ||
| rs752307 | 1 | 226363828 | intron variant | C/A;G;T | snv | 1 |