Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1394074 | 1.000 | 0.040 | 1 | 114005041 | intron variant | C/G | snv | 2.9E-02 | 1 | ||
rs694539 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 10 | ||
rs146173241 | 1.000 | 0.040 | 10 | 116285226 | downstream gene variant | C/T | snv | 7.1E-03 | 2 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1565532385 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 3 | |||
rs74308953 | 1.000 | 0.040 | 9 | 118668911 | intergenic variant | G/A;C | snv | 2 | |||
rs730882211 | 1.000 | 0.040 | 4 | 118815132 | missense variant | C/G | snv | 2 | |||
rs28941773 | 0.925 | 0.120 | 12 | 120739168 | missense variant | C/T | snv | 2.0E-04 | 2.0E-04 | 2 | |
rs3761847 | 0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 | 8 | ||
rs10818488 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 8 | ||
rs17611 | 0.732 | 0.480 | 9 | 121006922 | missense variant | C/T | snv | 0.47 | 0.36 | 14 | |
rs25681 | 0.882 | 0.120 | 9 | 121017727 | synonymous variant | G/A | snv | 0.47 | 0.35 | 3 | |
rs992670 | 0.882 | 0.120 | 9 | 121019492 | intron variant | G/A | snv | 0.52 | 3 | ||
rs3773364 | 0.925 | 0.040 | 3 | 12148468 | intron variant | A/G | snv | 0.15 | 2 | ||
rs4895178 | 1.000 | 0.040 | 5 | 121518937 | intergenic variant | G/A | snv | 0.41 | 1 | ||
rs3755724 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 8 | ||
rs755041031 | 1.000 | 0.040 | 3 | 121799285 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs2920502 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 6 | ||
rs199542988 | 1.000 | 0.040 | 11 | 126277489 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs121912707 | 0.925 | 0.040 | 5 | 126552059 | missense variant | C/G | snv | 3.6E-04 | 2.4E-04 | 3 | |
rs121918321 | 0.925 | 0.040 | 9 | 127675855 | stop gained | C/T | snv | 2 | |||
rs730882212 | 0.851 | 0.120 | 2 | 130194199 | missense variant | G/A | snv | 7.2E-05; 4.0E-06 | 4.2E-05 | 4 |