Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1432422306 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 3 | ||
rs796096871 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 6 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 19 | ||
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs10432782 | 0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 | 7 | ||
rs805304 | 0.851 | 0.240 | 6 | 31730311 | 5 prime UTR variant | T/G | snv | 0.48 | 5 | ||
rs1188254133 | 0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 | 4 | ||
rs1870634 | 0.851 | 0.080 | 10 | 43985363 | downstream gene variant | T/G | snv | 0.59 | 4 | ||
rs1544935 | 0.925 | 0.160 | 6 | 39156672 | intergenic variant | T/G | snv | 0.18 | 3 | ||
rs2284659 | 0.882 | 0.160 | 4 | 24793175 | intron variant | T/G | snv | 0.49 | 3 | ||
rs3744700 | 0.882 | 0.080 | 17 | 4734715 | intron variant | T/G | snv | 0.66 | 3 | ||
rs16936752 | 0.925 | 0.120 | 9 | 93301408 | intron variant | T/G | snv | 8.3E-02 | 2 | ||
rs2296086 | 1.000 | 0.080 | 20 | 62009016 | non coding transcript exon variant | T/G | snv | 0.15 | 0.11 | 1 | |
rs8123 | 1.000 | 0.080 | 17 | 4733270 | 3 prime UTR variant | T/G | snv | 0.22 | 1 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs150629733 | 0.851 | 0.080 | 3 | 148741190 | missense variant | T/C;G | snv | 4.0E-06; 8.8E-05 | 4 | ||
rs1801058 | 0.882 | 0.120 | 4 | 3037423 | missense variant | T/C;G | snv | 0.62 | 4 | ||
rs374520012 | 0.882 | 0.120 | 20 | 38373994 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs10776909 | 0.925 | 0.160 | 9 | 134396900 | intron variant | T/C;G | snv | 2 | |||
rs1135402763 | 1.000 | 0.080 | 2 | 21032540 | missense variant | T/C;G | snv | 1 |