Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |
rs1065489 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 19 | |
rs1265538677 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 10 | ||
rs1965708 | 0.851 | 0.200 | 10 | 79557289 | missense variant | G/T | snv | 0.22 | 0.25 | 6 | |
rs397728201 | 0.925 | 0.160 | 10 | 79614033 | stop gained | C/A;T | snv | 3.6E-05; 4.0E-06 | 4 | ||
rs1749824 | 0.925 | 0.080 | 10 | 79164105 | intron variant | C/A | snv | 0.39 | 3 | ||
rs121909588 | 1.000 | 0.080 | 9 | 120962749 | stop gained | G/A | snv | 7.6E-05 | 1.7E-04 | 2 | |
rs121964921 | 1.000 | 0.080 | 5 | 40955428 | missense variant | G/A;C;T | snv | 1.6E-05; 1.3E-04; 5.3E-05 | 2 | ||
rs426736 | 1.000 | 0.040 | 1 | 196791287 | intron variant | A/G | snv | 0.28 | 2 | ||
rs749495848 | 9 | 117713210 | missense variant | A/C;G | snv | 4.0E-06 | 2 | ||||
rs10749071 | 10 | 111334279 | intergenic variant | A/G;T | snv | 1 | |||||
rs11728925 | 4 | 41711648 | intergenic variant | C/A;T | snv | 1 | |||||
rs11913168 | 22 | 30210575 | upstream gene variant | G/A | snv | 0.12 | 1 | ||||
rs1792624 | 11 | 94188644 | non coding transcript exon variant | G/A | snv | 0.31 | 1 | ||||
rs4809944 | 20 | 53885423 | TF binding site variant | A/C;G | snv | 1 | |||||
rs4897668 | 8 | 134018372 | intergenic variant | A/G | snv | 0.46 | 1 | ||||
rs7830326 | 8 | 39210657 | intron variant | A/G | snv | 0.46 | 1 | ||||
rs13070790 | 3 | 105417143 | intron variant | C/G;T | snv | 1 | |||||
rs4823231 | 22 | 45692239 | intron variant | T/A;C | snv | 1 | |||||
rs112959008 | 9 | 121030401 | missense variant | C/G;T | snv | 3.2E-04 | 1 | ||||
rs2244614 | 16 | 55810705 | intron variant | G/A | snv | 0.52 | 0.50 | 1 | |||
rs2420864 | 2 | 124459809 | intron variant | T/A;C | snv | 1 | |||||
rs4556879 | 18 | 74138268 | intron variant | C/T | snv | 4.3E-02 | 1 | ||||
rs655683 | 11 | 88943686 | intron variant | G/T | snv | 0.27 | 1 |