Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs180749 | 1.000 | 0.040 | 5 | 35033500 | missense variant | G/A | snv | 0.95 | 0.94 | 1 | |
rs4552883 | 0.925 | 0.040 | 8 | 139234730 | regulatory region variant | G/A;C | snv | 2 | |||
rs6918289 | 0.925 | 0.040 | 6 | 41134089 | intron variant | G/T | snv | 9.8E-02 | 2 | ||
rs138227502 | 0.925 | 0.040 | 3 | 186853221 | missense variant | C/T | snv | 1.8E-04 | 5.6E-04 | 2 | |
rs915014 | 0.925 | 0.040 | 1 | 11789412 | missense variant | T/C | snv | 2 | |||
rs4142986 | 0.925 | 0.040 | 9 | 99052344 | intron variant | C/A;G;T | snv | 1.1E-04; 0.75; 4.0E-06 | 2 | ||
rs16881446 | 0.925 | 0.040 | 4 | 11406961 | intron variant | T/C | snv | 0.27 | 2 | ||
rs769442590 | 0.925 | 0.040 | 8 | 19960927 | missense variant | A/C;G | snv | 1.6E-05 | 2 | ||
rs767523236 | 0.925 | 0.040 | 17 | 58279033 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 2 | |
rs13447720 | 0.925 | 0.040 | 11 | 94432160 | intron variant | T/C | snv | 0.17 | 2 | ||
rs499952 | 0.925 | 0.040 | 11 | 94449826 | intron variant | G/T | snv | 0.41 | 2 | ||
rs749582333 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 2 | |||
rs7177922 | 0.925 | 0.040 | 15 | 33616418 | intron variant | G/A | snv | 0.19 | 2 | ||
rs750996166 | 0.925 | 0.040 | 1 | 161041409 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs7833904 | 0.882 | 0.040 | 8 | 58505103 | upstream gene variant | A/T | snv | 0.55 | 3 | ||
rs8042271 | 0.882 | 0.040 | 15 | 89030987 | intergenic variant | G/A;T | snv | 3 | |||
rs28937313 | 0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 | 3 | ||
rs74577862 | 0.882 | 0.080 | 3 | 186843903 | intron variant | G/A | snv | 1.8E-02 | 3 | ||
rs201989364 | 0.882 | 0.080 | 3 | 186854295 | missense variant | A/G | snv | 6.4E-05 | 2.1E-05 | 3 | |
rs2269422 | 0.882 | 0.040 | 6 | 32183517 | intron variant | T/C | snv | 1.7E-02 | 5.8E-03 | 3 | |
rs12347433 | 0.882 | 0.040 | 9 | 115035318 | synonymous variant | T/C | snv | 0.23 | 0.21 | 3 | |
rs4916251 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 3 | ||
rs212528 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 3 | ||
rs8070488 | 0.882 | 0.080 | 17 | 81696901 | synonymous variant | T/C | snv | 0.21 | 0.26 | 3 | |
rs746481995 | 0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 | 3 |