Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs576499843 | 0.882 | 0.040 | 1 | 107617607 | missense variant | A/C;G | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs11669977 | 0.882 | 0.040 | 19 | 49060867 | non coding transcript exon variant | A/G | snv | 0.17 | 3 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs2754511 | 0.882 | 0.040 | 2 | 32545090 | intron variant | A/T | snv | 0.24 | 3 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs2801219 | 0.882 | 0.040 | 1 | 107959790 | intron variant | C/A | snv | 0.62 | 3 | ||
rs1001179 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 33 | ||
rs11720822 | 0.882 | 0.040 | 3 | 123150194 | intron variant | C/T | snv | 8.6E-02 | 6.6E-02 | 3 | |
rs1900004 | 0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 | 5 | ||
rs1466441587 | 0.882 | 0.040 | 1 | 107874935 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs2156323 | 0.882 | 0.040 | 9 | 133855699 | intron variant | G/A | snv | 9.2E-02 | 3 | ||
rs3793342 | 0.851 | 0.040 | 7 | 150998107 | intron variant | G/A | snv | 0.13 | 4 | ||
rs4656461 | 0.827 | 0.040 | 1 | 165717968 | TF binding site variant | G/A | snv | 0.85 | 7 | ||
rs61732310 | 0.882 | 0.040 | 19 | 49061735 | missense variant | G/A | snv | 4.5E-03 | 2.3E-03 | 3 | |
rs3825942 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 15 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs2165241 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 15 |