Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854607 | 0.801 | 0.107 | 3 | 38554309 | missense variant | C/G,T | snp | 5 | |||
rs267607490 | 0.878 | 0.143 | 2 | 219425734 | missense variant | C/T | snp | 4 | |||
rs397516089 | 0.846 | 0.036 | 14 | 23429807 | missense variant | C/G,T | snp | 4 | |||
rs397516248 | 0.923 | 0.107 | 14 | 23415153 | missense variant | C/T | snp | 4 | |||
rs397516471 | 0.878 | 0.071 | 1 | 201363348 | missense variant | C/T | snp | 4 | |||
rs397516784 | 0.923 | 0.071 | 6 | 118558961 | inframe deletion | AAGA/A | in-del | 4 | |||
rs397517889 | 0.878 | 0.143 | 1 | 156136093 | missense variant | C/T | snp | 4 | |||
rs45578238 | 0.878 | 0.071 | 1 | 201361971 | inframe deletion | ATCT/A | in-del | 4 | |||
rs60682848 | 0.846 | 0.143 | 1 | 156134838 | stop gained | C/T | snp | 4 | |||
rs104894655 | 0.923 | 0.143 | 17 | 39665762 | stop gained | C/T | snp | 3 | |||
rs121912997 | 0.923 | 0.143 | 6 | 7579989 | stop gained | C/G,T | snp | 3 | |||
rs267607003 | 0.923 | 0.036 | 10 | 110812310 | missense variant | C/A,G,T | snp | 3 | |||
rs267607004 | 0.923 | 0.036 | 10 | 110812304 | missense variant | G/A | snp | 3 | |||
rs397517643 | 0.923 | 0.143 | 2 | 178592914 | frameshift variant | AC/A | in-del | 3 | |||
rs56984562 | 0.846 | 0.179 | 1 | 156137666 | missense variant | C/A,G,T | snp | 3 | |||
rs587782927 | 1.000 | 0.036 | 6 | 7574086 | frameshift variant | GAG/G | in-del | 3 | |||
rs59026483 | 0.821 | 0.143 | 1 | 156134457 | missense variant | C/T | snp | 3 | |||
rs61195471 | 0.846 | 0.107 | 1 | 156134496 | missense variant | G/A | snp | 3 | |||
rs61444459 | 0.878 | 0.143 | 1 | 156137667 | missense variant | G/A,C | snp | 3 | |||
rs727503586 | 0.923 | 0.143 | 2 | 178589508 | stop gained | A/T | snp | 3 | |||
rs74315380 | 0.878 | 0.071 | 1 | 201364366 | missense variant | G/A,C | snp | 3 | |||
rs794728096 | 0.923 | 0.071 | 18 | 31546445 | frameshift variant | GAGAG/G | in-del | 3 | |||
rs869025545 | 0.923 | 0.143 | 2 | 178566448 | stop gained | G/A | snp | 3 | |||
rs111033559 | 0.923 | 0.036 | 6 | 118558946 | missense variant | C/T | snp | 2 | |||
rs111569862 | 1.000 | 0.107 | 1 | 156137653 | splice acceptor variant | G/A,C | snp | 2 |