Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 | ||
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 | ||
rs2297595 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 10 | |
rs397518423 | 0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv | 10 | |||
rs67376798 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 9 | |
rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
rs878853314 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 5 | |||
rs878853315 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 5 | |||
rs1537514 | 0.882 | 0.120 | 1 | 11788011 | missense variant | G/C | snv | 0.10 | 0.10 | 4 | |
rs28928907 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 4 | ||
rs6667202 | 0.882 | 0.120 | 1 | 206783747 | intron variant | C/A;T | snv | 4 | |||
rs768288280 | 1.000 | 0.080 | 1 | 97740403 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs587778516 | 1 | 43338592 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs780517804 | 1 | 23798701 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs1559810905 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 9 | |||
rs886043118 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 5 | |||
rs5030764 | 0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 | 5 | |
rs3814055 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 4 | ||
rs1523127 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 3 |