Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs59923016 | 1.000 | 0.120 | 16 | 49765545 | intron variant | CA/-;CACA;CACACA;CACACACA;CACACACACA | delins | 1 | |||
rs1989839 | 0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 | 8 | |
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs730882048 | 1.000 | 0.120 | 7 | 152660726 | frameshift variant | A/- | delins | 7.7E-05 | 1 | ||
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 | |
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs2287498 | 0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 | 4 | |
rs2287497 | 0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 | 3 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs2146323 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 13 | ||
rs3025033 | 0.807 | 0.360 | 6 | 43783338 | non coding transcript exon variant | A/G | snv | 0.18 | 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 | |||
rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 14 | ||
rs74917072 | 0.882 | 0.120 | 2 | 238022053 | intron variant | G/A;T | snv | 3 | |||
rs11168936 | 0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv | 17 | |||
rs6005807 | 0.925 | 0.120 | 22 | 28538325 | intron variant | T/C | snv | 0.89 | 2 | ||
rs3737787 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 11 | ||
rs527236196 | 1.000 | 0.120 | MT | 15890 | non coding transcript exon variant | C/A | snv | 1 | |||
rs4648551 | 0.882 | 0.120 | 1 | 3716166 | intron variant | G/A | snv | 0.32 | 3 | ||
rs6695978 | 0.882 | 0.120 | 1 | 3731781 | intron variant | G/A | snv | 7.3E-02 | 3 | ||
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 |