Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs807181 | 0.851 | 0.120 | X | 108090354 | intron variant | G/C;T | snv | 4 | |||
rs807183 | 0.851 | 0.120 | X | 108094263 | intron variant | G/A | snv | 0.51 | 4 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1057519911 | 0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv | 10 | |||
rs746700511 | 0.851 | 0.080 | 22 | 37665657 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs5757465 | 0.882 | 0.080 | 22 | 39081118 | synonymous variant | T/C | snv | 0.37 | 0.31 | 3 | |
rs767649 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 18 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs3213173 | 0.776 | 0.120 | 20 | 33677440 | missense variant | C/T | snv | 1.2E-03 | 5.1E-03 | 8 | |
rs3213176 | 0.776 | 0.120 | 20 | 33676869 | missense variant | C/T | snv | 1.9E-02; 5.1E-06 | 1.8E-02 | 8 | |
rs3765459 | 0.807 | 0.280 | 20 | 46128768 | intron variant | G/A;C | snv | 0.22 | 7 | ||
rs3213172 | 0.882 | 0.080 | 20 | 33677511 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 3 | |
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 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs3787016 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 24 | ||
rs3213245 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 13 | |
rs7248320 | 0.776 | 0.160 | 19 | 48256972 | non coding transcript exon variant | G/A | snv | 0.65 | 8 | ||
rs1003897973 | 0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv | 3 |