Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1447708158 | 1.000 | 0.120 | 3 | 12604160 | synonymous variant | C/T | snv | 7.0E-06 | 1 | ||
rs764168570 | 1.000 | 0.120 | 3 | 12608879 | synonymous variant | C/T | snv | 7.0E-06 | 1 | ||
rs1127717 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 3 | |
rs150865017 | 1.000 | 0.120 | 3 | 126154627 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 1 | ||
rs4150506 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 4 | ||
rs2167270 | 0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 | 17 | ||
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs2308321 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 29 | |
rs2308327 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 10 | |
rs4975616 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 12 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs2069812 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 5 | ||
rs2237060 | 1.000 | 0.120 | 5 | 132635193 | intron variant | T/G | snv | 0.29 | 1 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs146713238 | 1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 | 1 | |
rs2070673 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 5 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 24 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs121913357 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 12 | |||
rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
rs3733846 | 0.807 | 0.200 | 5 | 149425059 | non coding transcript exon variant | T/C | snv | 0.19 | 6 | ||
rs17723799 | 1.000 | 0.120 | 5 | 149427514 | non coding transcript exon variant | C/T | snv | 9.9E-02 | 1 | ||
rs41291957 | 0.882 | 0.200 | 5 | 149428827 | intron variant | G/A | snv | 0.12 | 7 | ||
rs1314305899 | 0.807 | 0.280 | 7 | 151003224 | missense variant | C/T | snv | 7.9E-06 | 2.1E-05 | 6 |