Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs869025483 | 14 | 23413805 | protein altering variant | GACT/A | delins | 1 | |||||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
rs45578238 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 4 | |||
rs397517887 | 1 | 156136074 | inframe deletion | ATGGAGATCCACGCC/- | delins | 1 | |||||
rs58978449 | 1 | 156134943 | inframe deletion | AAG/- | delins | 1 | |||||
rs794728597 | 1 | 156130624 | inframe deletion | AAG/- | delins | 1 | |||||
rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 4 | ||
rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 | |||
rs267607483 | 1.000 | 0.160 | 2 | 219420349 | splice region variant | A/G;T | snv | 2 | |||
rs587782987 | 2 | 178611274 | splice region variant | G/A | snv | 1.1E-04; 4.1E-06 | 1.0E-04 | 1 | |||
rs869312070 | 0.925 | 0.160 | 2 | 178613938 | splice acceptor variant | C/T | snv | 4.1E-06 | 3 | ||
rs111569862 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 1 | |||||
rs202234172 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 1 | |||
rs6716782 | 2 | 178706956 | splice acceptor variant | T/G | snv | 1.3E-04 | 5.9E-04 | 1 | |||
rs727503738 | 10 | 74095654 | splice acceptor variant | A/G | snv | 1 | |||||
rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
rs869025548 | 2 | 178620627 | splice acceptor variant | T/C | snv | 1 | |||||
rs869025549 | 2 | 178583229 | splice acceptor variant | T/C | snv | 1 | |||||
rs869025550 | 2 | 178579395 | splice acceptor variant | T/C | snv | 1 | |||||
rs869312041 | 2 | 178682904 | splice acceptor variant | C/- | del | 1 | |||||
rs869312073 | 2 | 178592278 | splice acceptor variant | C/T | snv | 1 | |||||
rs876657665 | 2 | 178614754 | splice acceptor variant | C/G | snv | 1 | |||||
rs876657667 | 2 | 178586809 | splice acceptor variant | T/C | snv | 1 | |||||
rs876657668 | 2 | 178585348 | splice acceptor variant | C/G | snv | 1 |