Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1034713634 | 1.000 | 0.080 | 3 | 42536097 | missense variant | C/A;T | snv | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs2239185 | 0.807 | 0.320 | 12 | 47850776 | intron variant | G/A | snv | 0.54 | 6 | ||
rs757343 | 0.807 | 0.360 | 12 | 47845892 | intron variant | C/T | snv | 0.12 | 6 | ||
rs739837 | 0.882 | 0.200 | 12 | 47844438 | 3 prime UTR variant | G/C;T | snv | 5 | |||
rs11574129 | 0.882 | 0.160 | 12 | 47843520 | 3 prime UTR variant | A/G | snv | 1.6E-02 | 3 | ||
rs910049 | 0.776 | 0.400 | 6 | 32347950 | intron variant | T/C | snv | 0.76 | 8 | ||
rs1800460 | 0.807 | 0.320 | 6 | 18138997 | missense variant | C/T | snv | 2.8E-02 | 2.6E-02 | 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 | |||
rs2857009 | 1.000 | 0.080 | 6 | 32051969 | intron variant | G/C | snv | 0.25 | 2 | ||
rs2278034 | 1.000 | 0.080 | 3 | 195870036 | 3 prime UTR variant | T/C;G | snv | 0.44; 2.7E-05 | 1 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs20575 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 29 | |
rs4242392 | 1.000 | 0.080 | 8 | 23204120 | intron variant | T/C | snv | 0.19 | 1 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs187084 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 36 |