Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs104894127 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 4 | |||
rs9804190 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 5 | ||
rs945032 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 5 | ||
rs12936511 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 5 | |
rs279871 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 5 | ||
rs1060499679 | 0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins | 5 | |||
rs375382379 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs550659379 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs752834812 | 0.882 | 0.160 | 5 | 143399885 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs772651364 | 0.882 | 0.160 | 5 | 143400050 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs2279709 | 0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 | 5 | ||
rs40184 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 5 | ||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs74315457 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 6 | |
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs1018381 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 6 | ||
rs121909671 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs112543062 | 0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 | 6 | ||
rs736707 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 6 | ||
rs5177 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 6 | |||
rs13438494 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 6 | ||
rs7341475 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 6 | ||
rs669 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 7 |