Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912665 | 1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 7 | |
rs112431538 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs397516434 | 1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv | 3 | |||
rs573154688 | 1.000 | 0.160 | 17 | 7670711 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 3 | |
rs730882028 | 1.000 | 0.120 | 17 | 7670709 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs751477326 | 1.000 | 0.080 | 17 | 7675082 | missense variant | G/A;C | snv | 4.0E-06 | 3 | ||
rs1064795203 | 1.000 | 0.120 | 17 | 7675080 | missense variant | G/C;T | snv | 2 | |||
rs1131691004 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 2 | |||
rs1131691023 | 1.000 | 0.080 | 17 | 7675142 | missense variant | A/G;T | snv | 2 | |||
rs1131691033 | 1.000 | 0.120 | 17 | 7673534 | splice donor variant | C/- | delins | 2 | |||
rs1131691043 | 1.000 | 0.120 | 17 | 7675098 | missense variant | C/A | snv | 2 | |||
rs11575996 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 2 | |||
rs144340710 | 1.000 | 0.120 | 17 | 7674259 | missense variant | T/A;C | snv | 4.0E-06; 1.8E-04 | 2 | ||
rs149633775 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 2 | ||
rs1555525279 | 1.000 | 0.120 | 17 | 7673795 | missense variant | A/C | snv | 2 | |||
rs28934577 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 2 | |||
rs397516438 | 1.000 | 0.120 | 17 | 7676398 | splice acceptor variant | GGAA/ACGTTCTT | delins | 2 | |||
rs55863639 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 2 | |||
rs587778718 | 1.000 | 0.080 | 17 | 7674959 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 | 2 | ||
rs587780075 | 1.000 | 0.120 | 17 | 7673820 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
rs587781504 | 1.000 | 0.120 | 17 | 7676055 | missense variant | C/A;T | snv | 2 | |||
rs587781589 | 1.000 | 0.120 | 17 | 7674268 | missense variant | A/C;G | snv | 2 | |||
rs587781664 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 2 | |||
rs587782197 | 1.000 | 0.120 | 17 | 7675178 | missense variant | A/G;T | snv | 2 | |||
rs587782272 | 1.000 | 0.120 | 17 | 7670716 | splice acceptor variant | C/G;T | snv | 2 |