Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
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 | |||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs1001179 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 33 | ||
rs17577 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 31 | ||
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs2165241 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 15 | ||
rs3825942 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 15 | ||
rs1043618 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 10 | ||
rs4656461 | 0.827 | 0.040 | 1 | 165717968 | TF binding site variant | G/A | snv | 0.85 | 7 | ||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs3753841 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 7 | |
rs11024102 | 0.851 | 0.040 | 11 | 16987058 | intron variant | T/C | snv | 0.20 | 7 | ||
rs1015213 | 0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 | 6 | ||
rs2664538 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 6 | |||
rs3918249 | 0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 | 6 | ||
rs1900004 | 0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 | 5 | ||
rs3735520 | 0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv | 4 | |||
rs3793342 | 0.851 | 0.040 | 7 | 150998107 | intron variant | G/A | snv | 0.13 | 4 | ||
rs3788317 | 0.851 | 0.040 | 22 | 19902302 | intron variant | G/T | snv | 0.30 | 4 |