Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs1800440 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 29 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs3769821 | 0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 | 4 | ||
rs3835 | 0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 | 4 | ||
rs733618 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 12 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 44 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs2227928 | 0.851 | 0.200 | 3 | 142562770 | missense variant | A/G | snv | 0.55 | 0.63 | 6 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs11943456 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 18 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs3749474 | 0.724 | 0.320 | 4 | 55434518 | 3 prime UTR variant | C/T | snv | 0.33 | 17 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs1056503 | 0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 | 4 |