Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7015700 | 1.000 | 0.080 | 8 | 9670197 | splice donor variant | G/A | snv | 0.23 | 2 | ||
rs12296850 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 3 | ||
rs7309332 | 1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 | 3 | ||
rs778826879 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 3 | ||||
rs181696 | 0.925 | 0.080 | 3 | 155548315 | intron variant | T/C | snv | 0.55 | 3 | ||
rs1340420 | 0.925 | 0.080 | 10 | 91857549 | intron variant | A/G | snv | 0.71 | 0.70 | 3 | |
rs1770474 | 0.925 | 0.080 | 10 | 91833770 | intron variant | G/A;T | snv | 3 | |||
rs755683317 | 21 | 10567746 | missense variant | G/A;C | snv | 2.4E-05 | 3 | ||||
rs751144688 | 1.000 | 0.080 | 11 | 35206195 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs765660823 | 0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 | 4 | ||
rs1397529 | 0.882 | 0.080 | 4 | 143471009 | 3 prime UTR variant | A/C;T | snv | 4 | |||
rs4844880 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 4 | ||
rs199905033 | 0.882 | 0.080 | 5 | 55964205 | missense variant | G/C | snv | 4 | |||
rs1347093 | 0.882 | 0.080 | 2 | 56019205 | intron variant | G/T | snv | 0.21 | 4 | ||
rs139852726 | 0.882 | 0.080 | 5 | 1462734 | 3 prime UTR variant | G/A;C | snv | 4 | |||
rs125555 | 0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 | 4 | ||
rs8305 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 4 | |
rs3087399 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 4 | |
rs112290073 | 0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 | 4 | ||
rs138895564 | 0.882 | 0.080 | 5 | 1271959 | intron variant | C/T | snv | 5.1E-03 | 4 | ||
rs2269577 | 0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 | 4 | ||
rs3114020 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 5 | ||
rs1057519696 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 5 | |||
rs2073664 | 0.851 | 0.120 | 8 | 42374268 | synonymous variant | G/A | snv | 0.14 | 0.25 | 5 | |
rs759435862 | 0.925 | 0.080 | 2 | 8776852 | missense variant | C/A;T | snv | 2.0E-05 | 5 |