Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397516042 | 0.827 | 0.120 | 11 | 47332075 | stop gained | G/A | snv | 8.1E-06 | 7.0E-06 | 5 | |
rs397516456 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs727504247 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 5 | |
rs104894729 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 4 | |||
rs199476315 | 0.827 | 0.080 | 15 | 63061723 | missense variant | G/A | snv | 4 | |||
rs199476317 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 4 | |||
rs375882485 | 0.827 | 0.080 | 11 | 47342698 | missense variant | G/A | snv | 4.0E-05 | 9.8E-05 | 4 | |
rs397516074 | 0.827 | 0.120 | 11 | 47348424 | missense variant | C/T | snv | 1.7E-05 | 4.2E-05 | 4 | |
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 4 | |||
rs573916965 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 4 | ||
rs727504246 | 0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv | 4 | |||
rs397516005 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 3 | |
rs727503503 | 0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv | 3 | |||
rs36211723 | 0.851 | 0.080 | 11 | 47338520 | missense variant | C/G;T | snv | 1.6E-05 | 5 | ||
rs397516059 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 5 | ||
rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 5 | |||
rs727503166 | 0.851 | 0.080 | 11 | 47332110 | frameshift variant | T/- | del | 5 | |||
rs1060499604 | 0.851 | 0.080 | 11 | 47339323 | splice donor variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs199474703 | 0.851 | 0.120 | 3 | 46860702 | missense variant | C/T | snv | 8.0E-06 | 4 | ||
rs200411226 | 0.851 | 0.080 | 11 | 47342718 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 4 | |
rs36211715 | 0.851 | 0.080 | 14 | 23424839 | missense variant | C/A;G;T | snv | 4.0E-06 | 4 | ||
rs373746463 | 0.851 | 0.080 | 11 | 47333189 | splice region variant | C/A;G;T | snv | 1.8E-05; 4.4E-06 | 4 | ||
rs387906397 | 0.851 | 0.080 | 11 | 47333192 | splice donor variant | A/C;G | snv | 4 | |||
rs397515905 | 0.851 | 0.080 | 11 | 47342719 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 4 | ||
rs397515937 | 0.851 | 0.080 | 11 | 47339792 | splice acceptor variant | T/C | snv | 4 |