Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11554137 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 13 | |
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs1373481065 | 0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs1005230 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 5 | ||
rs17296479 | 0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 | 5 | ||
rs2234248 | 0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 | 5 | ||
rs3092993 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 5 | ||
rs374524467 | 0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs764803020 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 5 | ||
rs771563543 | 0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs781490101 | 0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs865880036 | 0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 | 5 | ||
rs1029044314 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 4 | |||
rs1306185959 | 0.851 | 0.040 | 8 | 38429805 | missense variant | T/C | snv | 7.0E-06 | 4 | ||
rs1320938886 | 0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
rs1340827343 | 0.851 | 0.040 | 6 | 31165259 | missense variant | C/T | snv | 4 | |||
rs1381537616 | 0.851 | 0.040 | 7 | 27174132 | missense variant | C/T | snv | 4 | |||
rs144551722 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 4 | ||
rs1957106 | 0.851 | 0.040 | 14 | 35404564 | synonymous variant | G/A | snv | 0.28 | 0.25 | 4 | |
rs200187877 | 0.851 | 0.040 | 4 | 23795829 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 4 | |
rs2017309 | 0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 | 4 | ||
rs28357681 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 4 | |||
rs375391381 | 0.851 | 0.040 | 15 | 43883735 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 4 | |
rs572480837 | 0.851 | 0.040 | 6 | 31165582 | missense variant | T/A | snv | 5.0E-04 | 8.4E-05 | 4 | |
rs755794544 | 0.851 | 0.040 | 7 | 512435 | missense variant | T/C | snv | 4.0E-06 | 4 |