Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs1800440 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 29 | ||
rs2012775 | 1.000 | 0.040 | 9 | 115141569 | intron variant | T/C | snv | 0.30 | 2 | ||
rs3213180 | 0.925 | 0.120 | 20 | 33675818 | 3 prime UTR variant | G/C | snv | 7.6E-02 | 4 | ||
rs3213182 | 1.000 | 0.040 | 20 | 33675427 | upstream gene variant | A/C | snv | 7.2E-02 | 1 | ||
rs3213183 | 1.000 | 0.040 | 20 | 33675156 | intron variant | G/A;C | snv | 1 | |||
rs2742976 | 0.882 | 0.240 | 1 | 23531510 | upstream gene variant | T/A;G | snv | 3 | |||
rs3218123 | 0.925 | 0.120 | 1 | 23531364 | upstream gene variant | C/A;G | snv | 2 | |||
rs3218203 | 1.000 | 0.040 | 1 | 23511068 | intron variant | C/A;G | snv | 1 | |||
rs3218211 | 1.000 | 0.040 | 1 | 23509302 | 3 prime UTR variant | A/G | snv | 0.48 | 1 | ||
rs6667575 | 1.000 | 0.040 | 1 | 23533029 | upstream gene variant | G/A | snv | 0.22 | 1 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs2072454 | 0.763 | 0.160 | 7 | 55146655 | synonymous variant | C/T | snv | 0.51 | 0.51 | 9 | |
rs149840192 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 7 | |||
rs1389500636 | 0.827 | 0.080 | 7 | 55156796 | missense variant | G/A | snv | 6 | |||
rs1276184054 | 0.851 | 0.080 | 7 | 55201305 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs776375114 | 0.851 | 0.080 | 7 | 55202577 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs1057519830 | 1.000 | 0.040 | 7 | 55163737 | missense variant | C/T | snv | 3 | |||
rs1057519887 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 3 | |||
rs769696078 | 0.925 | 0.040 | 7 | 55154128 | missense variant | G/A | snv | 3 | |||
rs121913433 | 1.000 | 0.040 | 7 | 55174771 | missense variant | A/G | snv | 1 | |||
rs1256743514 | 1.000 | 0.040 | 7 | 55191728 | missense variant | T/C | snv | 7.0E-06 | 1 |