Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2617160 | 1.000 | 0.080 | 12 | 10392998 | intron variant | A/C;T | snv | 1 | |||
rs61330082 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 13 | ||
rs11977021 | 0.827 | 0.240 | 7 | 106288069 | upstream gene variant | C/T | snv | 0.22 | 5 | ||
rs510432 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 11 | ||
rs76844316 | 1.000 | 0.080 | 3 | 112469762 | missense variant | T/G | snv | 2.4E-02 | 2.2E-02 | 1 | |
rs2280714 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 10 | ||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs148314165 | 0.925 | 0.160 | 6 | 137908902 | intergenic variant | T/- | delins | 2.0E-02 | 3 | ||
rs200820567 | 0.882 | 0.160 | 6 | 137908903 | intergenic variant | T/A | snv | 2.0E-02 | 4 | ||
rs78900671 | 1.000 | 0.080 | 8 | 138653967 | intron variant | G/A;C | snv | 1 | |||
rs3806798 | 0.925 | 0.080 | 4 | 141636126 | upstream gene variant | T/A | snv | 8.7E-02 | 2 | ||
rs1054690270 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 5 | |||
rs9287655 | 1.000 | 0.080 | 2 | 15245360 | intron variant | C/T | snv | 0.45 | 1 | ||
rs4845384 | 1.000 | 0.080 | 1 | 154615193 | intron variant | A/G | snv | 0.69 | 1 | ||
rs7549785 | 0.925 | 0.080 | 1 | 159308078 | 3 prime UTR variant | G/A | snv | 0.13 | 3 | ||
rs2794521 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 15 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs3775290 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 15 | ||
rs3106796 | 0.882 | 0.160 | 2 | 188985047 | non coding transcript exon variant | A/G | snv | 0.35 | 3 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs3024490 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 11 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 |