Source: CURATED ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 29 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
rs41293497 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 14 | ||
rs863224909 | 0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv | 14 | |||
rs370795352 | 0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 | 13 | ||
rs80358920 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 12 | |||
rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
rs28897756 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 11 | ||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 11 | |
rs80358435 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 11 | ||
rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 11 | ||
rs80358814 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 11 | ||
rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 11 | ||
rs80359212 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 11 | |
rs137853011 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 10 | |
rs397507404 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 10 | |||
rs41293511 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 10 | ||
rs80358391 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 10 | ||
rs80358427 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 10 | ||
rs80358557 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 10 | ||
rs80358893 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 10 | |||
rs80359014 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 10 | |||
rs80359031 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 10 | |||
rs397507327 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 9 |