Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1020388 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 2 | ||||
rs11984075 | 7 | 37397251 | intron variant | A/G | snv | 0.14 | 2 | ||||
rs1772408 | 1 | 159035859 | intron variant | A/G;T | snv | 2 | |||||
rs1876518 | 2 | 65381775 | intron variant | C/T | snv | 0.45 | 2 | ||||
rs975730 | 8 | 128303768 | intergenic variant | G/A | snv | 0.45 | 2 | ||||
rs4821112 | 22 | 21610472 | intron variant | G/A | snv | 0.21 | 1 | ||||
rs6498142 | 16 | 10987392 | intron variant | C/G | snv | 0.77 | 1 | ||||
rs926657 | 6 | 159042420 | non coding transcript exon variant | C/G;T | snv | 1 | |||||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 1 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 1 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 2 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 6 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 9 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 7 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 7 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 5 | |
rs2066845 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 5 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 7 | ||
rs187084 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 1 | ||
rs6679677 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 25 | ||
rs2104286 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 7 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 1 | ||
rs34536443 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 20 |