Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 22 | |
rs3480 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 8 | ||
rs11558492 | 0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 | 5 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs4374383 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 10 | ||
rs13412852 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 4 | ||
rs900837802 | 1.000 | 0.080 | 2 | 88595498 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs16851720 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 5 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs10833 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs3921 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 8 | ||
rs17047200 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 5 | ||
rs10336 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 4 | |||
rs10433937 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 4 | |||
rs4619915 | 0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 | 3 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 |