Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17471 | 1.000 | 0.120 | 3 | 120098826 | non coding transcript exon variant | A/T | snv | 6.3E-02 | 1 | ||
rs334543 | 1.000 | 0.120 | 3 | 120113774 | intron variant | C/A | snv | 0.74 | 1 | ||
rs2259816 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 8 | ||
rs2075241 | 0.882 | 0.200 | 12 | 12138545 | intron variant | G/A;C | snv | 0.18 | 4 | ||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs1143770 | 0.882 | 0.200 | 11 | 122146890 | intron variant | C/T | snv | 0.53 | 4 | ||
rs1476046 | 1.000 | 0.120 | 6 | 12292988 | intron variant | G/A | snv | 0.22 | 1 | ||
rs13254600 | 1.000 | 0.120 | 8 | 123077286 | intron variant | C/A;G | snv | 0.28; 4.8E-06 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs759853 | 0.827 | 0.320 | 7 | 134459206 | non coding transcript exon variant | G/A | snv | 0.33 | 6 | ||
rs3807337 | 1.000 | 0.120 | 7 | 134779071 | intron variant | A/G;T | snv | 1 | |||
rs1866813 | 1.000 | 0.120 | 3 | 137083096 | intergenic variant | A/C | snv | 0.14 | 1 | ||
rs953239 | 1.000 | 0.120 | 3 | 142727363 | intron variant | A/C | snv | 0.46 | 1 | ||
rs7638459 | 1.000 | 0.120 | 3 | 142771309 | intron variant | T/C | snv | 0.35 | 1 | ||
rs6930576 | 1.000 | 0.120 | 6 | 148383818 | intron variant | G/A | snv | 0.36 | 1 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 26 | |
rs11771443 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 8 | ||
rs1800783 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 7 | |||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs1549758 | 0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 | 7 |