Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12630592 | 0.851 | 0.080 | 3 | 120049399 | intron variant | G/A;T | snv | 5 | |||
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs112025902 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 4 | |||
rs371356064 | 0.882 | 0.120 | 12 | 121133072 | synonymous variant | C/T | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs1718119 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 21 | ||
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs1033656351 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 7 | |
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
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 | ||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
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 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs10988134 | 0.925 | 0.080 | 9 | 128833128 | 3 prime UTR variant | C/T | snv | 0.34 | 4 | ||
rs8192625 | 0.925 | 0.080 | 6 | 132571193 | missense variant | G/A | snv | 6.2E-02 | 7.8E-02 | 3 | |
rs4305745 | 0.882 | 0.080 | 6 | 132572573 | downstream gene variant | G/A | snv | 0.55 | 4 | ||
rs7452939 | 0.882 | 0.080 | 6 | 132572626 | downstream gene variant | G/A | snv | 4 | |||
rs6903874 | 0.851 | 0.080 | 6 | 132575771 | downstream gene variant | T/C | snv | 0.23 | 5 | ||
rs6937506 | 0.807 | 0.280 | 6 | 132578260 | intergenic variant | G/A | snv | 0.25 | 7 | ||
rs755302767 | 0.882 | 0.080 | 12 | 132621835 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs1402757753 | 0.882 | 0.080 | 12 | 132621913 | missense variant | G/A | snv | 7.0E-06 | 4 | ||
rs1881457 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 9 |