Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs773297988 | 0.882 | 0.080 | 3 | 138698965 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 4 | |
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs769442590 | 0.925 | 0.040 | 8 | 19960927 | missense variant | A/C;G | snv | 1.6E-05 | 2 | ||
rs76863441 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 25 | |
rs767523236 | 0.925 | 0.040 | 17 | 58279033 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 2 | |
rs7629265 | 0.882 | 0.080 | 3 | 38607330 | intron variant | C/T | snv | 2.3E-02 | 3 | ||
rs762513613 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 11 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs759003763 | 0.827 | 0.120 | 19 | 11113585 | missense variant | G/A | snv | 6 | |||
rs755725121 | 0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 | 4 | |
rs755460305 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 4 | |||
rs750996166 | 0.925 | 0.040 | 1 | 161041409 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs750805885 | 0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 | 3 | ||
rs749582333 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 2 | |||
rs747885829 | 1.000 | 0.040 | 1 | 247423957 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs746481995 | 0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs74577862 | 0.882 | 0.080 | 3 | 186843903 | intron variant | G/A | snv | 1.8E-02 | 3 | ||
rs7439293 | 0.807 | 0.080 | 4 | 168756335 | non coding transcript exon variant | G/A | snv | 0.44 | 6 | ||
rs72661131 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 15 | ||
rs7217186 | 0.827 | 0.120 | 17 | 4636097 | intron variant | C/T | snv | 0.45 | 5 | ||
rs7216389 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 14 | ||
rs7177922 | 0.925 | 0.040 | 15 | 33616418 | intron variant | G/A | snv | 0.19 | 2 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs6918289 | 0.925 | 0.040 | 6 | 41134089 | intron variant | G/T | snv | 9.8E-02 | 2 | ||
rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 |