Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10883437 | 1.000 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 | 3 | ||
rs4149313 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 9 | |||
rs4149267 | 1.000 | 0.040 | 9 | 104889664 | intron variant | T/C | snv | 0.47 | 1 | ||
rs2454206 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 6 | ||
rs2236212 | 1.000 | 0.040 | 6 | 10994782 | intron variant | G/C | snv | 0.39 | 2 | ||
rs768007422 | 1.000 | 0.040 | 13 | 111277667 | missense variant | C/G | snv | 1 | |||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs4374383 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 10 | ||
rs694539 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 10 | ||
rs3135507 | 0.925 | 0.120 | 11 | 116790772 | missense variant | C/T | snv | 5.0E-02 | 5.5E-02 | 3 | |
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs17120035 | 1.000 | 0.040 | 11 | 116793135 | upstream gene variant | C/T | snv | 6.4E-02 | 1 | ||
rs10750097 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 6 | |||
rs1263173 | 0.925 | 0.080 | 11 | 116810292 | downstream gene variant | G/A | snv | 0.53 | 4 | ||
rs2854117 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 6 | |||
rs2854116 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 7 | ||
rs2070667 | 1.000 | 0.040 | 11 | 116830953 | intron variant | G/A;C;T | snv | 2 | |||
rs2070666 | 0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv | 4 | |||
rs236918 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 10 | |||
rs200848339 | 1.000 | 0.040 | 9 | 117713001 | synonymous variant | A/G | snv | 2.4E-05 | 1 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs13412852 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 4 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |