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 | ||
rs11860248 | 0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 | 5 | ||
rs11979158 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 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 | ||
rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
rs374524467 | 0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs72709458 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 5 | |||
rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 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 | |||
rs10852606 | 0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv | 4 | |||
rs11233250 | 0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 | 4 | ||
rs1200941109 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 4 | |||
rs12230172 | 0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 | 4 | ||
rs12752552 | 0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 | 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 |