Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
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 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs6746030 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 16 | |
rs7775 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 14 | ||
rs419598 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 13 | |
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs288326 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 9 | |
rs17039192 | 0.851 | 0.120 | 2 | 46297441 | 5 prime UTR variant | C/T | snv | 1.9E-02 | 4 | ||
rs77245812 | 0.882 | 0.040 | 2 | 20003169 | missense variant | G/A | snv | 1.5E-02 | 1.2E-02 | 3 | |
rs3771501 | 0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 | 2 | ||
rs4144782 | 0.925 | 0.040 | 2 | 118844296 | non coding transcript exon variant | A/C;G | snv | 2 | |||
rs10172410 | 1.000 | 0.040 | 2 | 181487841 | intron variant | T/C | snv | 0.45 | 1 | ||
rs11688000 | 1.000 | 0.040 | 2 | 75066030 | intron variant | A/G | snv | 0.34 | 1 | ||
rs12618428 | 1.000 | 0.040 | 2 | 150876465 | regulatory region variant | A/G | snv | 0.14 | 1 | ||
rs2061027 | 1.000 | 0.040 | 2 | 33209269 | intron variant | A/G | snv | 0.44 | 1 | ||
rs2287047 | 1.000 | 0.040 | 2 | 102157594 | intron variant | G/A | snv | 0.39 | 1 | ||
rs2862851 | 1.000 | 0.040 | 2 | 70485670 | intron variant | T/C | snv | 0.58 | 1 | ||
rs62174901 | 1.000 | 0.040 | 2 | 165131833 | intron variant | T/C | snv | 0.12 | 1 | ||
rs62174906 | 1.000 | 0.040 | 2 | 165151847 | intron variant | A/G | snv | 0.13 | 1 | ||
rs62182810 | 1.000 | 0.040 | 2 | 203522759 | intron variant | G/A;C | snv | 1 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 |