Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1126647 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 8 | ||
rs821616 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 13 | |
rs373288445 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 3 | |
rs773758385 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 3 | |
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 | ||||
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs1018381 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 6 | ||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs2144025 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 4 | |||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs137853208 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 3 | |||
rs9470080 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 13 | |||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs9296158 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 16 | ||
rs121909671 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs279858 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 8 | |
rs279871 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 5 | ||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 | ||
rs279827 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 2 | |||
rs112543062 | 0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 | 6 | ||
rs1060499679 | 0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins | 5 |