Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1324214 | 0.925 | 0.120 | 1 | 94531732 | intron variant | G/A | snv | 0.21 | 3 | ||
rs1432422306 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 3 | ||
rs3917639 | 0.925 | 0.120 | 1 | 94527220 | downstream gene variant | C/T | snv | 2 | |||
rs708495 | 0.925 | 0.120 | 14 | 52302622 | intergenic variant | T/A | snv | 0.57 | 3 | ||
rs3024477 | 0.882 | 0.160 | 6 | 6250887 | missense variant | T/A | snv | 1.8E-02 | 1.9E-02 | 3 | |
rs4923918 | 0.882 | 0.160 | 15 | 41868745 | intron variant | G/A | snv | 4.1E-02 | 3 | ||
rs514659 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 10 | |||
rs5982 | 0.882 | 0.160 | 6 | 6174633 | missense variant | G/A | snv | 0.21 | 0.19 | 3 | |
rs9925481 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 5 | |||
rs1042034 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 15 | |
rs6131 | 0.851 | 0.200 | 1 | 169611647 | missense variant | C/T | snv | 0.20 | 0.22 | 4 | |
rs9551963 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 6 | |||
rs10118757 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 7 | ||
rs1057335 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 5 | |
rs6050 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 10 | ||
rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 | ||
rs2954029 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 14 | ||
rs3825807 | 0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 | 10 | |
rs1048990 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 8 | ||
rs1265538677 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 10 | ||
rs2228314 | 0.790 | 0.360 | 22 | 41880738 | missense variant | G/C | snv | 0.34 | 0.38 | 8 | |
rs544456198 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 9 | |
rs10507391 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 10 | ||
rs1746048 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 8 | ||
rs57137919 | 0.776 | 0.160 | 21 | 42218908 | intron variant | G/A | snv | 0.14 | 9 |