Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 34 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 31 | |
rs33915217 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 11 | ||
rs35004220 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 11 | |
rs35256489 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 5 | |
rs34451549 | 0.851 | 0.080 | 11 | 5225923 | intron variant | G/A | snv | 4.9E-05 | 4 | ||
rs33960103 | 0.882 | 0.080 | 11 | 5226930 | missense variant | C/G;T | snv | 1.0E-04; 8.0E-06 | 3 | ||
rs6759892 | 0.851 | 0.160 | 2 | 233693023 | missense variant | T/G | snv | 0.39 | 0.39 | 3 | |
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 2 | ||
rs193922555 | 0.925 | 0.080 | 11 | 5226641 | frameshift variant | C/- | delins | 2 | |||
rs34282684 | 0.925 | 0.080 | 11 | 5226688 | frameshift variant | AC/- | delins | 2 | |||
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 2 | |
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 1 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 1 |