Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8016947 | 0.925 | 0.080 | 14 | 35363460 | intron variant | T/G | snv | 0.60 | 2 | ||
rs1217414 | 0.882 | 0.120 | 1 | 113870045 | non coding transcript exon variant | G/A | snv | 0.36 | 3 | ||
rs2066807 | 0.925 | 0.080 | 12 | 56346898 | missense variant | C/G | snv | 4.9E-02 | 4.6E-02 | 4 | |
rs2243188 | 0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 | 4 | ||
rs4112788 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 4 | |||
rs4649203 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 4 | ||
rs4085613 | 0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 | 5 | ||
rs11117431 | 0.807 | 0.160 | 16 | 85981710 | intron variant | A/G | snv | 0.18 | 6 | ||
rs1267499 | 0.807 | 0.160 | 6 | 14715651 | intron variant | T/A;C | snv | 6 | |||
rs17266594 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 7 | |
rs3024493 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 9 | ||
rs35018800 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 9 | |
rs2280714 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 10 | ||
rs2294020 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 10 | |||
rs2431697 | 0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 | 10 | ||
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 10 | ||
rs6478108 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 10 | ||
rs10036748 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 11 | |||
rs10516487 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 11 | ||
rs12720356 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 12 | ||
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 12 | ||
rs6478109 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 12 | ||
rs3733197 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 13 | |
rs3747517 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 13 | |
rs7848647 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 13 |