Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518955 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 2 | ||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2853502 | 1.000 | 0.200 | MT | 13276 | missense variant | A/C;G;T | snv | 2 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs768435443 | 0.807 | 0.080 | 1 | 94055128 | missense variant | A/G | snv | 4.0E-06 | 8 | ||
rs12155400 | 7 | 18389298 | intron variant | A/G | snv | 2.9E-02 | 2 | ||||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs137853298 | 0.925 | 0.080 | 22 | 32859351 | missense variant | A/T | snv | 3 | |||
rs2146323 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 13 | ||
rs104893768 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 11 | |||
rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 10 | |
rs62638634 | 0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv | 4 | |||
rs375090109 | 6 | 42722120 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 1 | ||||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
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 | |||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs1557024919 | 0.925 | 0.240 | X | 53634235 | splice donor variant | C/G | snv | 7 | |||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 |