Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs149660944 | 0.851 | 0.200 | 19 | 33772017 | missense variant | C/A;T | snv | 6.5E-05; 4.0E-03 | 5 | ||
rs17849502 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 5 | ||
rs2431098 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 5 | |||
rs35929052 | 0.827 | 0.160 | 16 | 85960878 | downstream gene variant | C/G;T | snv | 5 | |||
rs960709 | 0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv | 5 | |||
rs1322403577 | 0.882 | 0.120 | 10 | 79613818 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs17435 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 4 | |||
rs4958880 | 0.851 | 0.160 | 5 | 151058916 | intron variant | C/A;G | snv | 4 | |||
rs540386 | 0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv | 4 | |||
rs5754467 | 0.851 | 0.160 | 22 | 21630805 | upstream gene variant | A/G;T | snv | 4 | |||
rs58721818 | 0.851 | 0.160 | 6 | 137922602 | regulatory region variant | C/G;T | snv | 4 | |||
rs755460305 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 4 | |||
rs12540874 | 0.882 | 0.280 | 7 | 50597225 | intron variant | A/C;G | snv | 3 | |||
rs13079920 | 0.882 | 0.200 | 3 | 29404440 | intron variant | G/A;T | snv | 3 | |||
rs2596480 | 0.925 | 0.120 | 6 | 31458208 | intron variant | C/G;T | snv | 3 | |||
rs378299 | 0.882 | 0.160 | 21 | 44241460 | upstream gene variant | C/T | snv | 3 | |||
rs6726035 | 0.882 | 0.120 | 2 | 204251279 | regulatory region variant | T/A;C | snv | 3 | |||
rs7601754 | 0.882 | 0.160 | 2 | 191075725 | intron variant | G/A;T | snv | 3 | |||
rs77583790 | 0.882 | 0.080 | 3 | 159976265 | intron variant | G/A;C | snv | 3 | |||
rs10178332 | 0.925 | 0.120 | 2 | 11268891 | intron variant | C/A;G | snv | 2 | |||
rs17612648 | 1.000 | 0.040 | 1 | 198696788 | synonymous variant | C/G;T | snv | 8.8E-03; 8.0E-05 | 2 | ||
rs2234650 | 0.925 | 0.080 | 2 | 102141867 | 5 prime UTR variant | C/G;T | snv | 2 | |||
rs2409781 | 0.925 | 0.120 | 8 | 11502048 | intron variant | T/A;C | snv | 2 | |||
rs267607656 | 0.925 | 0.080 | 12 | 52675439 | inframe deletion | GTAGCTGCTACCTCCGGAGCC/- | delins | 2 | |||
rs34551253 | 0.925 | 0.080 | 11 | 2415234 | missense variant | C/A;T | snv | 2.3E-02 | 2 |