Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1556620697 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 10 | |||
rs2287886 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 9 | ||
rs1732778 | 0.882 | 0.080 | 12 | 113019120 | upstream gene variant | G/A | snv | 0.22 | 5 | ||
rs1365483160 | 1.000 | 0.040 | 9 | 128836915 | missense variant | G/A | snv | 1 | |||
rs4251552 | 1.000 | 0.040 | 12 | 43787338 | 3 prime UTR variant | A/G | snv | 4.7E-02 | 1 | ||
rs2072136 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 6 | ||
rs2067085 | 1.000 | 0.040 | 16 | 50699948 | synonymous variant | C/A;G | snv | 4.1E-06; 0.33 | 1 | ||
rs121918338 | 0.807 | 0.160 | 9 | 136370362 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs5743704 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 9 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs2285932 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 5 |