Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs371061770 | 0.882 | 0.080 | 11 | 47333610 | missense variant | G/A;C | snv | 6.6E-05 | 4.2E-05 | 1 | |
rs371564200 | 1.000 | 0.080 | 11 | 47341207 | missense variant | C/G;T | snv | 3.1E-05; 1.3E-05 | 1 | ||
rs397515938 | 1.000 | 0.080 | 11 | 47339784 | missense variant | G/A | snv | 1 | |||
rs397515945 | 1.000 | 0.080 | 11 | 47351325 | missense variant | C/T | snv | 2.3E-05 | 1.4E-05 | 1 | |
rs397515964 | 1.000 | 0.080 | 11 | 47337543 | missense variant | C/A;G;T | snv | 8.0E-06; 1.2E-05 | 1 | ||
rs397516002 | 0.925 | 0.080 | 11 | 47333664 | missense variant | G/A;C;T | snv | 4.0E-06 | 1 | ||
rs398123280 | 1.000 | 0.080 | 11 | 47335872 | splice region variant | C/T | snv | 1.4E-05 | 1 | ||
rs587782957 | 1.000 | 0.080 | 11 | 47342693 | frameshift variant | AACCG/- | delins | 1 | |||
rs727503171 | 1.000 | 0.080 | 11 | 47332580 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs727503194 | 1.000 | 0.080 | 11 | 47341194 | missense variant | T/C | snv | 1 | |||
rs727504235 | 0.925 | 0.080 | 11 | 47333742 | missense variant | C/T | snv | 5.5E-05 | 3.5E-05 | 1 | |
rs730880138 | 1.000 | 0.080 | 11 | 47334008 | missense variant | G/A | snv | 2.8E-05 | 1 | ||
rs730880143 | 1.000 | 0.080 | 11 | 47343625 | splice acceptor variant | C/T | snv | 1 | |||
rs730880544 | 1.000 | 0.080 | 11 | 47342680 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs730880565 | 1.000 | 0.080 | 11 | 47337722 | missense variant | G/A | snv | 1.4E-04 | 5.6E-05 | 1 | |
rs730880576 | 1.000 | 0.080 | 11 | 47335199 | stop gained | C/T | snv | 1 | |||
rs730880604 | 1.000 | 0.080 | 11 | 47332113 | stop gained | A/C;G | snv | 1 | |||
rs730880629 | 1.000 | 0.080 | 11 | 47347430 | stop gained | T/A;G | snv | 4.8E-06; 4.8E-06 | 1 | ||
rs730880635 | 1.000 | 0.080 | 11 | 47343595 | stop gained | G/A;T | snv | 4.1E-06 | 1 | ||
rs730880664 | 1.000 | 0.080 | 11 | 47351294 | frameshift variant | G/- | del | 1 | |||
rs730880686 | 1.000 | 0.080 | 11 | 47346269 | frameshift variant | G/- | del | 1 | |||
rs730880702 | 1.000 | 0.080 | 11 | 47332173 | missense variant | A/G | snv | 1 | |||
rs730880704 | 1.000 | 0.080 | 11 | 47350103 | stop gained | G/A;C | snv | 1 | |||
rs730880720 | 1.000 | 0.080 | 11 | 47332836 | frameshift variant | -/T | delins | 1 | |||
rs771929829 | 1.000 | 0.080 | 11 | 47348449 | stop gained | G/A;T | snv | 8.1E-06; 4.1E-06 | 1 |