Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4661636 | 0.925 | 0.160 | 1 | 15496566 | intron variant | C/T | snv | 0.24 | 2 | ||
rs1052576 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 9 | ||
rs6449182 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 6 | ||
rs56287471 | 1.000 | 0.120 | 5 | 159323135 | missense variant | C/T | snv | 3.8E-04 | 1.5E-03 | 1 | |
rs754651345 | 1.000 | 0.120 | 5 | 159326751 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1003421753 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 1 | |||
rs1921310 | 1.000 | 0.120 | 2 | 161192690 | intron variant | A/G | snv | 0.15 | 1 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs147603016 | 0.925 | 0.160 | 5 | 177093286 | synonymous variant | G/A;C | snv | 1.5E-04; 8.2E-06 | 3 | ||
rs1979277 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 45 | |
rs1335035506 | 1.000 | 0.120 | 17 | 18340207 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs148701087 | 1.000 | 0.120 | 17 | 18340762 | missense variant | G/A | snv | 6.4E-04 | 8.8E-04 | 1 | |
rs1799931 | 0.742 | 0.320 | 8 | 18400860 | missense variant | G/A | snv | 5.8E-02 | 3.9E-02 | 14 | |
rs6948 | 1.000 | 0.120 | 4 | 184627976 | 3 prime UTR variant | G/T | snv | 0.48 | 3 | ||
rs1049216 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 9 | ||
rs3817198 | 0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 | 8 | ||
rs3900115 | 1.000 | 0.120 | 2 | 201185954 | synonymous variant | A/G | snv | 0.45 | 0.49 | 3 | |
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs6736233 | 1.000 | 0.120 | 2 | 201254251 | intron variant | G/C | snv | 0.16 | 1 | ||
rs3769821 | 0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 | 4 | ||
rs113686495 | 0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 4 | |||
rs13113 | 0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 | 2 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 |