Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473457 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 11 | |||
rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 6 | ||
rs17221854 | 0.807 | 0.120 | 11 | 2777990 | missense variant | C/T | snv | 1.6E-05 | 6 | ||
rs199472709 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 6 | |||
rs17215500 | 0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 | 5 | ||
rs120074186 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 4 | ||
rs120074185 | 0.925 | 0.120 | 11 | 2776032 | missense variant | C/A;T | snv | 1.1E-05; 1.1E-05 | 3 | ||
rs120074189 | 0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv | 3 | |||
rs120074196 | 0.882 | 0.120 | 11 | 2572057 | missense variant | G/A;C | snv | 4.0E-06 | 3 | ||
rs12720459 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 3 | |||
rs147445322 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 3 | ||
rs1554920808 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 3 | |||
rs1800171 | 0.882 | 0.120 | 11 | 2583545 | splice region variant | G/A;C;T | snv | 4.0E-06 | 3 | ||
rs199472712 | 0.882 | 0.120 | 11 | 2572053 | missense variant | G/A;T | snv | 4.0E-06 | 3 | ||
rs199472720 | 0.925 | 0.120 | 11 | 2572105 | missense variant | G/A;T | snv | 1.6E-05 | 3 | ||
rs199472755 | 0.851 | 0.120 | 11 | 2583478 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs199472776 | 0.882 | 0.120 | 11 | 2587630 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-04 | 3 | ||
rs199472815 | 0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 | 3 | ||
rs199473411 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 3 | |||
rs199473442 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 3 | |||
rs199473456 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 3 | ||
rs397508111 | 0.882 | 0.120 | 11 | 2528023 | splice region variant | G/A;C | snv | 1.2E-05 | 3 | ||
rs397508112 | 0.882 | 0.120 | 11 | 2570638 | frameshift variant | T/- | del | 3 | |||
rs794728537 | 0.925 | 0.120 | 11 | 2778023 | stop gained | C/T | snv | 3 | |||
rs120074177 | 0.925 | 0.120 | 11 | 2570682 | missense variant | G/A;C | snv | 4.0E-06 | 2 |