Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 3 | |||
rs281874727 | 1.000 | 0.160 | X | 108681837 | stop gained | C/T | snv | 2 | |||
rs11196205 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 7 | |||
rs1249719 | 1.000 | 0.120 | 9 | 114235944 | intron variant | G/A | snv | 6.8E-02 | 2 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1160535157 | X | 120449056 | stop gained | G/C | snv | 1 | |||||
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs104893768 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 11 | |||
rs2853502 | 1.000 | 0.200 | MT | 13276 | missense variant | A/C;G;T | snv | 2 | |||
rs1800592 | 0.807 | 0.200 | 4 | 140572807 | upstream gene variant | T/C | snv | 0.40 | 8 | ||
rs137853006 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 11 | |||
rs12155400 | 7 | 18389298 | intron variant | A/G | snv | 2.9E-02 | 2 | ||||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 10 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 |