Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs165774 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 11 | ||
rs2066702 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 7 | |
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs1799972 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 6 | ||
rs6454674 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 5 | ||
rs13273442 | 0.882 | 0.080 | 8 | 42688874 | intergenic variant | A/G | snv | 0.66 | 4 | ||
rs2952621 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 4 | |||
rs2629540 | 0.925 | 0.080 | 10 | 124737579 | intron variant | G/C | snv | 0.18 | 4 | ||
rs1051660 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 3 | ||
rs1868152 | 0.925 | 0.080 | 3 | 186502274 | intergenic variant | A/G;T | snv | 0.85 | 2 | ||
rs2281285 | 0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 | 2 | ||
rs12284594 | 1.000 | 0.080 | 11 | 125309957 | intron variant | A/G;T | snv | 2 | |||
rs17174638 | 1.000 | 0.080 | 6 | 154039434 | stop gained | C/T | snv | 6.3E-03 | 3.1E-02 | 1 | |
rs10654394 | 1.000 | 0.080 | 2 | 25161588 | inframe insertion | CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | delins | 3.9E-05 | 1 |