Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs14271 | 1.000 | 0.080 | 1 | 9729092 | 3 prime UTR variant | C/T | snv | 2.2E-02 | 1 | ||
rs1229729609 | 1.000 | 0.080 | 1 | 9715706 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs1374013062 | 1 | 9720852 | frameshift variant | GGCGCTAGCCCGGC/- | del | 4.1E-06 | 1 | ||||
rs138742347 | 1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 | 1 | |
rs148838884 | 1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 | 1 | |
rs28730670 | 1.000 | 0.080 | 1 | 9717608 | missense variant | C/A;G;T | snv | 1.4E-03 | 1 | ||
rs545136223 | 1.000 | 0.200 | 1 | 9720653 | missense variant | G/A | snv | 6.3E-05 | 1.2E-04 | 1 | |
rs587777389 | 1.000 | 0.080 | 1 | 9720793 | missense variant | G/A | snv | 1 | |||
rs587777390 | 1.000 | 0.080 | 1 | 9719924 | missense variant | T/C | snv | 1 | |||
rs748011804 | 1.000 | 0.120 | 1 | 9718800 | missense variant | A/G | snv | 1 | |||
rs7516214 | 1 | 9651616 | upstream gene variant | A/G | snv | 0.52 | 1 | ||||
rs753025128 | 1.000 | 0.160 | 1 | 9720755 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 | 1 | |
rs759640288 | 1.000 | 0.080 | 1 | 9720853 | missense variant | G/A | snv | 8.3E-06 | 1 | ||
rs765797019 | 1 | 9720754 | missense variant | C/T | snv | 3.3E-05 | 3.5E-05 | 1 | |||
rs766440014 | 1.000 | 0.040 | 1 | 9715556 | missense variant | G/A | snv | 8.1E-06 | 1 | ||
rs774421473 | 1 | 9721156 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs4240895 | 1.000 | 0.120 | 1 | 9653328 | non coding transcript exon variant | C/T | snv | 0.53 | 1 | ||
rs4240896 | 1 | 9653442 | non coding transcript exon variant | G/A;C | snv | 1 | |||||
rs7516138 | 1 | 9651584 | upstream gene variant | A/G | snv | 0.52 | 2 | ||||
rs765798990 | 0.925 | 0.120 | 1 | 9717609 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs750392184 | 0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs755725121 | 0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 | 4 | |
rs768827923 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 6 | |||
rs397518423 | 0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv | 10 |