Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs533123 | 0.882 | 0.160 | 1 | 28814643 | intron variant | G/A;C | snv | 3 | |||
rs10747478 | 1.000 | 0.040 | 1 | 96435899 | intergenic variant | T/A;C;G | snv | 1 | |||
rs7532266 | 1.000 | 0.040 | 1 | 23225130 | regulatory region variant | A/C | snv | 0.66 | 1 | ||
rs1042571 | 0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 | 3 | ||
rs750136455 | 0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 | 2 | |
rs80326661 | 0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 | 2 | |
rs2287348 | 1.000 | 0.040 | 2 | 53812676 | intron variant | C/A;T | snv | 1 | |||
rs3749073 | 1.000 | 0.040 | 2 | 230910379 | missense variant | C/A | snv | 0.12 | 0.17 | 1 | |
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs4684677 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 13 | |
rs495225 | 0.882 | 0.040 | 3 | 172448243 | synonymous variant | G/A;C;T | snv | 0.66 | 4 | ||
rs9839776 | 0.851 | 0.160 | 3 | 181593779 | intron variant | C/G;T | snv | 4 | |||
rs554073050 | 0.925 | 0.040 | 3 | 42263460 | synonymous variant | G/A | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs13100344 | 1.000 | 0.040 | 3 | 94886263 | intergenic variant | T/A | snv | 0.40 | 1 | ||
rs752298108 | 1.000 | 0.040 | 3 | 10286806 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 1 | |
rs9821797 | 1.000 | 0.040 | 3 | 48680820 | intron variant | T/A | snv | 0.20 | 1 | ||
rs9874207 | 1.000 | 0.040 | 3 | 70970599 | non coding transcript exon variant | T/C | snv | 0.64 | 1 | ||
rs12504244 | 0.925 | 0.040 | 4 | 54619021 | intergenic variant | C/A;G;T | snv | 2 | |||
rs13125782 | 1.000 | 0.040 | 4 | 7426539 | intron variant | T/A;C;G | snv | 1 | |||
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs33388 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 12 | ||
rs10052957 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 4 |