| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113993959 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 25 | ||
| rs113993960 | 0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 | 6 | ||
| rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
| rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
| rs115545701 | 0.925 | 0.160 | 7 | 117509089 | missense variant | C/T | snv | 1.5E-03 | 4.3E-03 | 2 | |
| rs117230773 | 1.000 | 0.120 | 6 | 32465964 | intron variant | G/A | snv | 1 | |||
| rs1177201180 | 1.000 | 0.120 | 7 | 117592160 | missense variant | A/T | snv | 1 | |||
| rs11971167 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 3 | ||
| rs1199914684 | 1.000 | 0.120 | 7 | 117536639 | stop gained | G/T | snv | 1 | |||
| rs1204521684 | 1.000 | 0.120 | 7 | 117540180 | missense variant | T/A;C;G | snv | 4.0E-06 | 1 | ||
| rs121908745 | 0.925 | 0.160 | 7 | 117559587 | inframe deletion | ATC/- | delins | 2 | |||
| rs121908746 | 0.925 | 0.160 | 7 | 117592213 | frameshift variant | AA/-;A;AAA;AAAA | delins | 7.7E-05 | 2 | ||
| rs121908748 | 0.925 | 0.160 | 7 | 117590440 | splice donor variant | G/A;C;T | snv | 3.2E-05; 4.0E-06 | 2 | ||
| rs121908749 | 0.925 | 0.160 | 7 | 117509092 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 | 2 | |
| rs121908750 | 1.000 | 0.120 | 7 | 117509140 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs121908751 | 0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
| rs121908752 | 0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 | 4 | |
| rs121908753 | 0.851 | 0.160 | 7 | 117540285 | missense variant | G/A | snv | 2.4E-05 | 4 | ||
| rs121908754 | 1.000 | 0.120 | 7 | 117559643 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs121908755 | 0.882 | 0.200 | 7 | 117587800 | missense variant | G/A;T | snv | 8.8E-05 | 3 | ||
| rs121908757 | 0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
| rs121908758 | 0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 4 | |
| rs121908759 | 0.827 | 0.160 | 7 | 117592032 | missense variant | G/A | snv | 1.0E-04 | 3.8E-04 | 5 | |
| rs121908760 | 0.925 | 0.160 | 7 | 117592292 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 2 | |
| rs121908761 | 0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 | 4 |