Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338876 | 1.000 | 0.080 | 7 | 100641198 | missense variant | C/T | snv | 7.8E-05 | 1.3E-04 | 1 | |
rs80338877 | 1.000 | 0.080 | 7 | 100641173 | frameshift variant | -/G | delins | 7.5E-06 | 1 | ||
rs80338878 | 1.000 | 0.080 | 7 | 100640846 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs80338883 | 1.000 | 0.080 | 7 | 100630922 | inframe deletion | TTG/- | delins | 1 | |||
rs80338884 | 1.000 | 0.080 | 7 | 100629313 | missense variant | C/T | snv | 1.4E-05 | 1 | ||
rs80338887 | 1.000 | 0.080 | 7 | 100627761 | frameshift variant | G/- | delins | 1 | |||
rs80338888 | 1.000 | 0.080 | 7 | 100627387 | inframe insertion | CTGGGCCACGGC/-;CTGGGCCACGGCCTGGGCCACGGC | delins | 2.1E-05 | 1 | ||
rs80338889 | 1.000 | 0.080 | 7 | 100626830 | missense variant | T/C;G | snv | 1 | |||
rs80338890 | 1.000 | 0.080 | 7 | 100621127 | splice acceptor variant | C/T | snv | 7.7E-06 | 7.0E-06 | 1 | |
rs80338881 | 0.925 | 0.080 | 7 | 100632099 | stop gained | G/A | snv | 2 | |||
rs80338879 | 0.882 | 0.080 | 7 | 100633515 | missense variant | A/T | snv | 8.3E-06 | 3 | ||
rs80338886 | 0.882 | 0.080 | 7 | 100628228 | missense variant | A/C | snv | 3 | |||
rs80338882 | 0.851 | 0.080 | 7 | 100630973 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs80338891 | 0.851 | 0.080 | 7 | 100620889 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 4 | |
rs200249435 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 5 | ||
rs35201683 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 12 | ||
rs780246573 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 12 | ||
rs80338880 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 12 | ||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 |