Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs2229291 | 0.827 | 0.200 | 1 | 53210729 | missense variant | T/G | snv | 2.3E-02 | 1.5E-02 | 8 | |
rs1057518827 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 3 | |||
rs864309530 | 1 | 235806165 | missense variant | G/T | snv | 3 | |||||
rs876538 | 1 | 159705927 | upstream gene variant | T/A;C | snv | 2 | |||||
rs1204135596 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs2808635 | 1 | 159724419 | intergenic variant | G/C;T | snv | 1 | |||||
rs3811047 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 10 | |
rs121918622 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
rs61752115 | 0.807 | 0.320 | 2 | 61048535 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs121917748 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 4 | ||
rs1055229 | 1.000 | 0.040 | 2 | 207666959 | non coding transcript exon variant | C/T | snv | 0.26 | 2 | ||
rs12477677 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 2 | ||
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs199473605 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 7 | ||
rs1187636039 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 5 | |||
rs199473229 | 0.882 | 0.120 | 3 | 38560361 | missense variant | A/G | snv | 4 | |||
rs199473092 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 3 | |||
rs199473143 | 0.925 | 0.080 | 3 | 38597949 | missense variant | T/G | snv | 3 | |||
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs747753882 | 0.925 | 0.120 | 4 | 38797482 | synonymous variant | A/G | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs755789256 | 4 | 55868434 | missense variant | G/A | snv | 2.8E-05 | 1.3E-04 | 1 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs2146323 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 13 |