Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6609533 | 0.790 | 0.200 | X | 47585887 | 3 prime UTR variant | A/G;T | snv | 0.46 | 7 | ||
rs138886989 | 0.925 | 0.160 | X | 101401763 | missense variant | T/C | snv | 1.9E-04 | 2.8E-05 | 2 | |
rs2250747 | 1.000 | 0.040 | X | 118729785 | intron variant | A/G | snv | 0.16 | 1 | ||
rs1176147476 | 1.000 | 0.040 | 22 | 35386688 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs1431221552 | 1.000 | 0.040 | 22 | 38132989 | missense variant | C/A;T | snv | 1 | |||
rs73158393 | 1.000 | 0.040 | 22 | 32939401 | intron variant | C/G | snv | 0.18 | 1 | ||
rs9617650 | 1.000 | 0.040 | 22 | 18006117 | non coding transcript exon variant | G/C | snv | 0.19 | 1 | ||
rs1202989817 | 0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 | 18 | |
rs12627514 | 1.000 | 0.040 | 21 | 43339560 | intergenic variant | C/A;G;T | snv | 3 | |||
rs2234694 | 0.882 | 0.240 | 21 | 31666552 | intron variant | A/C | snv | 3.6E-02 | 3.4E-02 | 3 | |
rs229340 | 1.000 | 0.040 | 21 | 43535523 | intron variant | T/C | snv | 2 | |||
rs2823743 | 1.000 | 0.040 | 21 | 16295399 | intron variant | T/A;C | snv | 2 | |||
rs2096468 | 1.000 | 0.040 | 21 | 34289445 | intron variant | A/C;T | snv | 1 | |||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs4809324 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 7 | ||
rs528557 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 6 | ||
rs3918396 | 0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 | 5 | |
rs4647958 | 0.851 | 0.080 | 20 | 49984094 | missense variant | T/C | snv | 0.18 | 0.29 | 5 | |
rs2280091 | 0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 | 3 | |
rs612709 | 0.882 | 0.120 | 20 | 3671560 | intron variant | G/A | snv | 0.17 | 0.25 | 3 | |
rs13040716 | 1.000 | 0.040 | 20 | 32182402 | downstream gene variant | A/G | snv | 1.0E-01 | 2 | ||
rs201191171 | 0.925 | 0.080 | 20 | 46013279 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 2 |