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 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs62068372 | 0.925 | 0.080 | 16 | 89718699 | intron variant | T/C;G | snv | 2 | |||
rs752907384 | 0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 | 6 | ||
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 | |||
rs749140677 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 13 | ||
rs4516035 | 0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 | 10 | ||
rs2107301 | 0.807 | 0.120 | 12 | 47861787 | intron variant | G/A | snv | 0.26 | 7 | ||
rs7975128 | 1.000 | 0.040 | 12 | 47852045 | intron variant | G/A | snv | 0.34 | 1 | ||
rs1320553543 | 1.000 | 0.040 | 19 | 6836546 | missense variant | A/T | snv | 1 | |||
rs1359132498 | 1.000 | 0.040 | 17 | 82374361 | missense variant | G/A | snv | 1 | |||
rs1382979668 | 1.000 | 0.040 | 11 | 113809254 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
rs10830253 | 0.851 | 0.080 | 11 | 89294875 | intron variant | T/G | snv | 0.29 | 4 | ||
rs200476704 | 1.000 | 0.040 | 17 | 7930659 | stop gained | G/A;C | snv | 2.4E-05 | 1 | ||
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 | |||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 |