Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2050568 | 0.925 | 0.160 | 1 | 157800451 | intron variant | C/T | snv | 0.57 | 2 | ||
rs2184658 | 0.925 | 0.120 | 1 | 220879115 | intron variant | C/G | snv | 0.20 | 2 | ||
rs3811035 | 1.000 | 0.120 | 1 | 157515771 | splice region variant | G/A | snv | 0.63 | 0.51 | 2 | |
rs10908583 | 1.000 | 0.120 | 1 | 157671893 | downstream gene variant | C/T | snv | 0.57 | 1 | ||
rs1149386 | 1.000 | 0.120 | 1 | 160471451 | TF binding site variant | G/C | snv | 0.96 | 1 | ||
rs12136280 | 1.000 | 0.120 | 1 | 203302802 | intron variant | G/T | snv | 0.35 | 1 | ||
rs1265883 | 1.000 | 0.120 | 1 | 160495121 | intron variant | C/A;G | snv | 0.96 | 1 | ||
rs12743184 | 1.000 | 0.120 | 1 | 157784569 | intergenic variant | A/G | snv | 0.21 | 1 | ||
rs1371808321 | 1.000 | 0.120 | 1 | 100724755 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs2210911 | 1.000 | 0.120 | 1 | 157674077 | downstream gene variant | A/G | snv | 0.46 | 1 | ||
rs2765493 | 1.000 | 0.120 | 1 | 157828210 | downstream gene variant | G/A | snv | 0.41 | 1 | ||
rs6427598 | 1.000 | 0.120 | 1 | 161514774 | non coding transcript exon variant | T/A | snv | 1 | |||
rs6663606 | 1.000 | 0.120 | 1 | 203295900 | downstream gene variant | T/A | snv | 0.40 | 1 | ||
rs6667109 | 1.000 | 0.120 | 1 | 157535368 | intron variant | A/T | snv | 0.72 | 1 | ||
rs6689427 | 1.000 | 0.120 | 1 | 157811102 | intron variant | A/G | snv | 0.44 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 |