| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1278838206 | 0.925 | 0.200 | X | 100296654 | missense variant | C/T | snv | 1.1E-05 | 3 | ||
| rs121918363 | 0.925 | 0.200 | X | 100667292 | missense variant | A/G | snv | 5.7E-04 | 4.1E-04 | 2 | |
| rs9390754 | 1.000 | 0.040 | 6 | 101517038 | intron variant | A/G | snv | 0.20 | 1 | ||
| rs4840200 | 1.000 | 0.040 | 6 | 101879428 | intron variant | T/C | snv | 7.8E-02 | 1 | ||
| rs3213607 | 0.925 | 0.080 | 6 | 102035481 | synonymous variant | C/A;T | snv | 6.5E-02; 2.0E-05 | 2 | ||
| rs2235076 | 0.925 | 0.080 | 6 | 102068385 | missense variant | G/A | snv | 1.8E-02 | 1.7E-02 | 2 | |
| rs200345816 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 3 | ||
| rs71547482 | 1.000 | 0.040 | 6 | 103600058 | intergenic variant | -/TGCAATCT | delins | 0.11 | 1 | ||
| rs1470522542 | 1.000 | 0.040 | 7 | 103989335 | missense variant | G/A;C | snv | 5.0E-06; 5.0E-06 | 1 | ||
| rs71568191 | 1.000 | 0.040 | 6 | 104230957 | intergenic variant | G/A | snv | 8.1E-02 | 2 | ||
| rs9694676 | 0.925 | 0.080 | 8 | 104588948 | 5 prime UTR variant | A/G | snv | 8.6E-02 | 0.20 | 2 | |
| rs72700966 | 1.000 | 0.040 | 9 | 10505224 | intron variant | C/G;T | snv | 1 | |||
| rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
| rs374319146 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 6 | ||
| rs575822089 | 0.882 | 0.120 | 4 | 106262103 | stop gained | G/A | snv | 7.7E-05 | 2.2E-04 | 3 | |
| rs2930491 | 1.000 | 0.040 | 8 | 106830066 | intergenic variant | C/G;T | snv | 0.20 | 2 | ||
| rs1554823375 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 8 | |||
| rs192669225 | 0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv | 3 | |||
| rs536289169 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 13 | ||
| rs11214136 | 1.000 | 0.040 | 11 | 112211286 | intron variant | T/C | snv | 0.12 | 1 | ||
| rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
| rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
| rs1553709380 | 0.925 | 0.040 | 3 | 113778833 | missense variant | C/G | snv | 3 | |||
| rs1553709855 | 0.925 | 0.040 | 3 | 113784310 | missense variant | G/T | snv | 2 | |||
| rs1553710664 | 0.925 | 0.040 | 3 | 113794928 | missense variant | G/A | snv | 2 |