Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7385804 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 14 | ||
rs116112266 | 2 | 107482651 | intron variant | G/C | snv | 3.5E-03 | 1 | ||||
rs143130997 | 6 | 109780207 | intron variant | G/A | snv | 5.9E-03 | 2 | ||||
rs2442120 | 5 | 118970884 | intron variant | A/C | snv | 0.98 | 2 | ||||
rs1799852 | 3 | 133756878 | synonymous variant | C/T | snv | 0.13 | 0.11 | 5 | |||
rs8177240 | 3 | 133758857 | intron variant | T/C;G | snv | 0.29 | 5 | ||||
rs6762719 | 3 | 133761973 | non coding transcript exon variant | A/G | snv | 0.31 | 4 | ||||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
rs141555380 | X | 154677735 | 3 prime UTR variant | C/T | snv | 4.2E-02 | 1 | ||||
rs17052130 | X | 155675419 | intergenic variant | T/C | snv | 4.0E-02 | 1 | ||||
rs181143083 | 6 | 157434218 | intron variant | T/A | snv | 7.5E-04 | 2 | ||||
rs9990333 | 3 | 196100334 | intergenic variant | C/T | snv | 0.42 | 4 | ||||
rs111991936 | 7 | 23289983 | regulatory region variant | G/A | snv | 1.1E-02 | 1 | ||||
rs111722075 | 6 | 25373818 | intron variant | C/T | snv | 0.11 | 2 | ||||
rs202056061 | 6 | 25494109 | intron variant | AGTT/- | delins | 2.8E-02 | 2 | ||||
rs116009877 | 6 | 25715429 | regulatory region variant | G/A;T | snv | 4 | |||||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs113507773 | 6 | 26255511 | upstream gene variant | G/A | snv | 0.10 | 2 | ||||
rs13191659 | 6 | 27033276 | intron variant | C/G;T | snv | 4 | |||||
rs35237909 | 6 | 27256188 | 3 prime UTR variant | ATCT/- | delins | 4.2E-02 | 1 | ||||
rs4642515 | 6 | 32664039 | non coding transcript exon variant | T/A;G | snv | 1 | |||||
rs140911738 | 20 | 32849813 | 3 prime UTR variant | G/C | snv | 9.3E-03 | 1 | ||||
rs138584487 | 22 | 33416876 | intron variant | G/A;C | snv | 1 | |||||
rs147477420 | 11 | 33988237 | TF binding site variant | G/A | snv | 3.2E-03 | 1 |