Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs696 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 22 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs324011 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 12 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs3138053 | 0.790 | 0.280 | 14 | 35405648 | upstream gene variant | T/C | snv | 0.26 | 10 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs9268403 | 0.807 | 0.240 | 6 | 32373696 | intron variant | T/C | snv | 0.24 | 6 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs3135932 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 23 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs182123615 | 0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 | 7 | |
rs56302315 | 0.827 | 0.160 | 4 | 55089802 | missense variant | C/T | snv | 5.3E-04 | 4.1E-04 | 5 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs397507545 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 20 | ||
rs872071 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs121964877 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 5 |