Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1448674651 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 23 | ||
rs12953717 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 18 | ||
rs4464148 | 0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 | 7 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
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 | |||
rs1979277 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 45 | |
rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 40 | |
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 30 | |
rs744166 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 22 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs8073069 | 0.807 | 0.200 | 17 | 78213692 | upstream gene variant | G/C | snv | 0.33 | 7 | ||
rs1131691029 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 6 | |||
rs17878467 | 0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv | 6 | |||
rs8176318 | 0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 | 6 | |
rs2737 | 0.851 | 0.080 | 17 | 47981705 | missense variant | T/C | snv | 0.25 | 0.19 | 4 | |
rs4562 | 0.925 | 0.080 | 17 | 7260420 | missense variant | A/G | snv | 0.65 | 0.70 | 3 | |
rs2243828 | 0.925 | 0.080 | 17 | 58281523 | upstream gene variant | A/G;T | snv | 2 | |||
rs2302313 | 0.925 | 0.080 | 17 | 58205665 | 3 prime UTR variant | G/A | snv | 9.2E-02 | 8.3E-02 | 2 | |
rs3744400 | 0.925 | 0.080 | 17 | 7260404 | synonymous variant | A/C;G | snv | 4.1E-02; 8.0E-06; 4.0E-06 | 2.4E-02 | 2 | |
rs764986276 | 0.925 | 0.080 | 17 | 18333172 | missense variant | C/G;T | snv | 4.0E-06; 4.4E-05 | 2 | ||
rs8905 | 0.925 | 0.080 | 17 | 68531661 | 3 prime UTR variant | T/A;G | snv | 2 | |||
rs1800566 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 59 | |
rs9929218 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 16 |