Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs60986317 | 1.000 | 0.160 | 13 | 51934853 | missense variant | G/A | snv | 2.0E-03 | 2.8E-03 | 1 | |
rs375692175 | 1.000 | 0.160 | 13 | 51934859 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs1555282191 | 1.000 | 0.160 | 13 | 51934870 | frameshift variant | -/A | delins | 1 | |||
rs1057517191 | 1.000 | 0.160 | 13 | 51934912 | frameshift variant | G/- | delins | 1 | |||
rs1555282316 | 1.000 | 0.160 | 13 | 51935003 | frameshift variant | -/A | delins | 1 | |||
rs181250704 | 1.000 | 0.160 | 13 | 51935019 | missense variant | G/A | snv | 1.1E-03 | 1.5E-03 | 1 | |
rs1555282347 | 1.000 | 0.160 | 13 | 51935031 | splice acceptor variant | T/C | snv | 1 | |||
rs1365425480 | 1.000 | 0.160 | 13 | 51935593 | missense variant | C/G | snv | 1 | |||
rs780811477 | 1.000 | 0.160 | 13 | 51935599 | missense variant | A/C;G | snv | 1 | |||
rs755584106 | 1.000 | 0.160 | 13 | 51935603 | stop gained | G/A;C;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
rs1555282678 | 1.000 | 0.160 | 13 | 51935611 | missense variant | G/A | snv | 1 | |||
rs749171049 | 1.000 | 0.160 | 13 | 51935614 | missense variant | A/G | snv | 8.1E-06 | 1 | ||
rs771603301 | 1.000 | 0.160 | 13 | 51935624 | frameshift variant | CA/- | delins | 1.4E-05 | 1 | ||
rs776848753 | 1.000 | 0.160 | 13 | 51935629 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs759551693 | 1.000 | 0.160 | 13 | 51935640 | missense variant | C/A;G | snv | 8.1E-06; 4.0E-06 | 1 | ||
rs1555282751 | 1.000 | 0.160 | 13 | 51935654 | missense variant | C/T | snv | 1 | |||
rs193922110 | 1.000 | 0.160 | 13 | 51935659 | stop gained | C/G;T | snv | 8.1E-06 | 1 | ||
rs1160679283 | 1.000 | 0.160 | 13 | 51935660 | missense variant | A/G | snv | 4.1E-06 | 1 | ||
rs1388795855 | 1.000 | 0.160 | 13 | 51935663 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs786204578 | 1.000 | 0.160 | 13 | 51935666 | stop gained | G/A | snv | 4.1E-06 | 1 | ||
rs587783318 | 1.000 | 0.160 | 13 | 51935678 | missense variant | C/T | snv | 1.2E-04 | 4.2E-05 | 1 | |
rs779494870 | 1.000 | 0.160 | 13 | 51935695 | missense variant | C/T | snv | 1.3E-05 | 1.4E-05 | 1 | |
rs1555282816 | 1.000 | 0.160 | 13 | 51935697 | splice acceptor variant | T/G | snv | 1 | |||
rs587783317 | 1.000 | 0.160 | 13 | 51937276 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1555283564 | 1.000 | 0.160 | 13 | 51937291 | frameshift variant | T/- | del | 1 |