Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1474798132 | 0.925 | 0.120 | 7 | 99665170 | synonymous variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs142513793 | 1.000 | 0.040 | X | 48047088 | intron variant | C/T | snv | 2.1E-02 | 1 | ||
rs755017 | 0.925 | 0.080 | 20 | 63790269 | synonymous variant | A/C;G | snv | 0.17 | 2 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs755850200 | 1.000 | 0.040 | 12 | 47846347 | missense variant | T/C | snv | 2.1E-05 | 7.0E-06 | 2 | |
rs12297124 | 1.000 | 0.040 | 12 | 131920888 | non coding transcript exon variant | G/A;C;T | snv | 1 | |||
rs4921437 | 0.925 | 0.040 | 5 | 159263943 | intron variant | T/A;C | snv | 2 | |||
rs34536443 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 25 | |
rs2076530 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 17 | |
rs5743899 | 0.807 | 0.160 | 11 | 1302334 | intron variant | C/T | snv | 0.71 | 6 | ||
rs3750920 | 0.807 | 0.120 | 11 | 1288726 | synonymous variant | C/T | snv | 0.40 | 0.38 | 7 | |
rs1061624 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 8 | ||
rs3397 | 1.000 | 0.040 | 1 | 12207235 | 3 prime UTR variant | C/T | snv | 0.51 | 1 | ||
rs1800630 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 17 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs3093662 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 9 | ||
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 | |
rs3764880 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 11 | |
rs5743810 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 21 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs754342091 | 0.790 | 0.200 | 9 | 117712421 | missense variant | A/G | snv | 3.2E-05 | 1.4E-05 | 7 |