Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs775277800 | 0.851 | 0.120 | 18 | 70166989 | missense variant | C/G;T | snv | 4.0E-06 | 4 | ||
rs730882223 | 0.851 | 0.120 | 1 | 184054736 | missense variant | T/G | snv | 4 | |||
rs730882212 | 0.851 | 0.120 | 2 | 130194199 | missense variant | G/A | snv | 7.2E-05; 4.0E-06 | 4.2E-05 | 4 | |
rs121434311 | 0.882 | 0.120 | 13 | 24884083 | missense variant | T/A | snv | 4.0E-06 | 3 | ||
rs199722402 | 0.925 | 0.120 | 15 | 40987186 | missense variant | C/T | snv | 3.1E-04 | 8.4E-04 | 3 | |
rs730882226 | 0.925 | 0.120 | 15 | 41071953 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 3 | |
rs730882227 | 0.925 | 0.120 | 5 | 69509603 | frameshift variant | -/T | delins | 3 | |||
rs587777036 | 0.925 | 0.120 | 12 | 8939418 | missense variant | C/T | snv | 3 | |||
rs730882224 | 0.882 | 0.120 | 19 | 49861818 | frameshift variant | -/GTCGATGGCGACCCGTT | delins | 3 |