Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12720458 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 20 | |
rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 6 | ||
rs199472709 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 6 | |||
rs199472795 | 0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs397508097 | 0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 6 | |
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 6 | ||
rs74315445 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 5 | |
rs17215500 | 0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 | 5 | ||
rs397516042 | 0.827 | 0.120 | 11 | 47332075 | stop gained | G/A | snv | 8.1E-06 | 7.0E-06 | 5 | |
rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 4 | ||
rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 4 | |||
rs199473428 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 4 | ||
rs120074186 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 4 | ||
rs397508118 | 0.851 | 0.120 | 11 | 2570720 | frameshift variant | GCGCT/- | delins | 1.4E-05 | 4 | ||
rs12720452 | 0.882 | 0.120 | 3 | 38603758 | missense variant | C/T | snv | 2.9E-04 | 2.9E-04 | 4 | |
rs137854600 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 4 | |||
rs199473282 | 0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs116840778 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 4 | |||
rs28936686 | 0.851 | 0.200 | 3 | 8745688 | missense variant | G/A;T | snv | 1.6E-04; 2.0E-05 | 4 | ||
rs267607277 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 3 | |||
rs121912997 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 3 | |||
rs199472921 | 0.882 | 0.120 | 7 | 150951712 | missense variant | C/G;T | snv | 3 | |||
rs199472957 | 0.882 | 0.120 | 7 | 150951507 | missense variant | T/A;C;G | snv | 3 | |||
rs199472990 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs199473538 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 3 |