Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10758669 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 10 | |||
rs11221332 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 13 | |||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2872507 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 12 | |||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs3939286 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 12 | |||
rs4129267 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 13 | |||
rs4845604 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 10 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs540973741 | 0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 2 | |||
rs5743293 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 7 | |||
rs6927172 | 0.851 | 0.120 | 6 | 137681038 | intron variant | C/A;G;T | snv | 5 | |||
rs762421 | 0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv | 4 | |||
rs7746082 | 0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv | 5 | |||
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs199883290 | 0.925 | 0.120 | 16 | 50729867 | missense variant | G/A;C | snv | 4.0E-06; 1.5E-02 | 7.0E-06 | 2 | |
rs754342091 | 0.790 | 0.200 | 9 | 117712421 | missense variant | A/G | snv | 3.2E-05 | 1.4E-05 | 7 | |
rs2066847 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 18 | ||
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 |