Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1234314 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 7 | |||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2768759 | 0.851 | 0.200 | 1 | 156882671 | downstream gene variant | A/C;G | snv | 4 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs4244285 | 0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 | 18 | ||
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs822442 | 0.851 | 0.160 | 1 | 156913423 | missense variant | C/A;T | snv | 0.14; 4.0E-06 | 4 | ||
rs869109213 | 0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins | 10 | |||
rs899127658 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 82 | |||
rs9818870 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 9 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs76863441 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 25 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs186696265 | 0.882 | 0.040 | 6 | 160690668 | intergenic variant | C/T | snv | 1.0E-02 | 6 | ||
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 33 | ||
rs4769874 | 0.827 | 0.240 | 13 | 30752304 | intron variant | G/A | snv | 5.8E-02 | 5 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 |