| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
| rs747607158 | 1.000 | 0.120 | 4 | 109740999 | missense variant | T/C | snv | 1 | |||
| rs7817 | 0.925 | 0.200 | 7 | 112475603 | 3 prime UTR variant | C/G;T | snv | 2 | |||
| rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
| rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
| rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
| rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
| rs7879546 | 1.000 | 0.120 | X | 116217020 | intergenic variant | T/C | snv | 1 | |||
| rs5952223 | 1.000 | 0.120 | X | 116255308 | intergenic variant | C/T | snv | 0.29 | 1 | ||
| rs397508136 | 1.000 | 0.120 | 7 | 117480082 | start lost | CGAGAGACCATGCAGAGGTCGCC/- | delins | 1 | |||
| rs397508328 | 1.000 | 0.120 | 7 | 117480095 | start lost | A/G | snv | 2.0E-05 | 1 | ||
| rs397508476 | 1.000 | 0.120 | 7 | 117480096 | start lost | T/A;C;G | snv | 8.0E-06 | 1 | ||
| rs397508657 | 1.000 | 0.120 | 7 | 117480097 | start lost | G/A;T | snv | 1 | |||
| rs1562876396 | 1.000 | 0.120 | 7 | 117480098 | frameshift variant | C/- | del | 1 | |||
| rs397508740 | 1.000 | 0.120 | 7 | 117480098 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs397508173 | 1.000 | 0.120 | 7 | 117480105 | stop gained | C/A;T | snv | 5.2E-05 | 1 | ||
| rs193922501 | 0.925 | 0.160 | 7 | 117480108 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 2 | |
| rs121909045 | 1.000 | 0.120 | 7 | 117480113 | stop gained | G/C;T | snv | 4.0E-06 | 1 | ||
| rs397508635 | 0.925 | 0.160 | 7 | 117480132 | missense variant | C/A;T | snv | 2 | |||
| rs1562876459 | 1.000 | 0.120 | 7 | 117480138 | missense variant | T/C | snv | 1 | |||
| rs397508714 | 1.000 | 0.120 | 7 | 117480138 | frameshift variant | T/-;TT;TTT | delins | 1 | |||
| rs1317756653 | 1.000 | 0.120 | 7 | 117480145 | frameshift variant | C/- | del | 1 | |||
| rs397508746 | 1.000 | 0.120 | 7 | 117480148 | splice donor variant | G/T | snv | 4.0E-06 | 1 | ||
| rs1562882675 | 1.000 | 0.120 | 7 | 117504251 | splice region variant | CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG/- | delins | 1 | |||
| rs1057516232 | 1.000 | 0.120 | 7 | 117504255 | stop gained | G/A | snv | 1 |