Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 31 | ||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs3219175 | 0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 | 10 | ||
rs6259 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 27 | |
rs758188449 | 0.925 | 0.080 | 17 | 7632936 | missense variant | G/A;T | snv | 6.8E-05; 4.0E-06 | 2 | ||
rs605965 | 0.925 | 0.080 | 6 | 75723198 | downstream gene variant | T/A | snv | 2.3E-02 | 2 | ||
rs12970291 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 12 | ||
rs1431264077 | 0.925 | 0.200 | 14 | 75048771 | frameshift variant | C/- | delins | 4.0E-06 | 2 | ||
rs771432878 | 0.925 | 0.080 | 15 | 74723013 | missense variant | A/G | snv | 4.0E-06 | 3.5E-05 | 2 | |
rs1799814 | 0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 | 8 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs11841589 | 1.000 | 0.080 | 13 | 73240754 | intergenic variant | G/T | snv | 0.31 | 1 | ||
rs7981863 | 1.000 | 0.080 | 13 | 73238004 | intergenic variant | C/T | snv | 0.32 | 1 | ||
rs9600103 | 1.000 | 0.080 | 13 | 73237742 | intergenic variant | A/T | snv | 0.33 | 1 | ||
rs117610694 | 1.000 | 0.080 | 11 | 73070209 | intron variant | C/T | snv | 9.6E-03 | 1 | ||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs13689 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 4 | |||
rs4783689 | 0.925 | 0.080 | 16 | 68819768 | intron variant | C/T | snv | 0.30 | 2 | ||
rs6499199 | 1.000 | 0.080 | 16 | 68815934 | intron variant | C/T | snv | 0.14 | 1 |