Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3803800 | 0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 | 7 | |
rs3957357 | 0.807 | 0.280 | 6 | 52803889 | upstream gene variant | A/G | snv | 0.63 | 7 | ||
rs73885319 | 0.851 | 0.120 | 22 | 36265860 | missense variant | A/G | snv | 1.6E-02 | 6.6E-02 | 6 | |
rs379489 | 0.851 | 0.200 | 1 | 196724321 | intron variant | A/G | snv | 0.65 | 4 | ||
rs12197043 | 0.882 | 0.160 | 6 | 149130141 | regulatory region variant | A/G | snv | 0.37 | 3 | ||
rs12434215 | 0.882 | 0.160 | 14 | 59642862 | intron variant | A/G | snv | 0.33 | 3 | ||
rs3759126 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 3 | ||
rs2838302 | 0.925 | 0.080 | 21 | 43419273 | intron variant | A/G | snv | 1.0E-01 | 2 | ||
rs7490924 | 0.925 | 0.080 | 13 | 106519396 | non coding transcript exon variant | A/G | snv | 0.51 | 2 | ||
rs9349417 | 0.925 | 0.080 | 6 | 47612921 | intron variant | A/G | snv | 0.27 | 2 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs10887800 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 11 | |||
rs374118649 | 0.925 | 0.080 | 3 | 58097965 | missense variant | A/G;T | snv | 3.6E-05 | 2 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs11089788 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 5 | ||
rs13447075 | 0.882 | 0.120 | 8 | 127998344 | non coding transcript exon variant | C/A | snv | 4 | |||
rs2648862 | 0.882 | 0.120 | 8 | 128049539 | non coding transcript exon variant | C/A | snv | 2.9E-02 | 4 | ||
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs1749824 | 0.925 | 0.080 | 10 | 79164105 | intron variant | C/A | snv | 0.39 | 3 | ||
rs4253373 | 0.925 | 0.080 | 4 | 186250250 | missense variant | C/A | snv | 6.7E-04 | 2.5E-03 | 2 | |
rs756322971 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 9 |