Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs10516487 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 11 | ||
rs201802880 | 0.882 | 0.200 | 7 | 74779296 | missense variant | G/A | snv | 1.1E-03 | 4 | ||
rs1376314937 | 1.000 | 0.200 | 9 | 114361709 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs2839698 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 25 | ||
rs13447 | 0.882 | 0.200 | 7 | 75166663 | non coding transcript exon variant | T/A;C | snv | 1.9E-02 | 4 | ||
rs3135945 | 1.000 | 0.200 | 3 | 48467567 | synonymous variant | G/A | snv | 9.4E-03 | 4.0E-02 | 2 | |
rs11575837 | 1.000 | 0.200 | 6 | 31592893 | 5 prime UTR variant | C/T | snv | 2.4E-02 | 2 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 26 | ||
rs2070197 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 6 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs2736340 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 22 | ||
rs4917014 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 8 | ||
rs2254546 | 0.807 | 0.400 | 8 | 11486171 | upstream gene variant | A/G | snv | 0.83 | 6 | ||
rs7812879 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 6 |