Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 3 | |
rs2296160 | 0.925 | 0.120 | 1 | 207621975 | missense variant | A/G | snv | 0.82 | 0.81 | 1 | |
rs5743810 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 1 | |
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 3 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 5 | ||
rs3750920 | 0.807 | 0.120 | 11 | 1288726 | synonymous variant | C/T | snv | 0.40 | 0.38 | 1 | |
rs8176719 | 0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 | 3 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 3 | |
rs2274567 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 1 | |
rs8176751 | 1.000 | 0.040 | 9 | 133255635 | synonymous variant | C/A;T | snv | 0.13 | 1 | ||
rs8176722 | 1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 | 3 | |
rs8176743 | 1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 | 3 | |
rs8176746 | 0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 | 3 | ||
rs8176749 | 1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 | 4 | |
rs867186 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 5 | |
rs12788102 | 1.000 | 0.040 | 11 | 4769345 | synonymous variant | A/G | snv | 9.5E-02 | 9.6E-02 | 2 | |
rs3211938 | 0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 | 2 | |
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 1 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 12 | |||
rs8176693 | 0.851 | 0.160 | 9 | 133262254 | intron variant | C/T | snv | 9.9E-02 | 5 | ||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 3 | ||
rs77641731 | 1.000 | 0.040 | 9 | 133257521 | missense variant | T/C | snv | 3 | |||
rs7855466 | 0.925 | 0.080 | 9 | 133245916 | downstream gene variant | C/T | snv | 0.23 | 3 | ||
rs11036238 | 1.000 | 0.040 | 11 | 5204405 | upstream gene variant | G/C | snv | 0.21 | 2 | ||
rs1211375 | 1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv | 2 |