Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs1127354 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 26 | ||
rs7270101 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 10 | |
rs1314386070 | 0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 | 9 | ||
rs121912748 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 9 | |
rs1554785242 | 0.882 | 0.160 | 9 | 133426240 | missense variant | G/T | snv | 8 | |||
rs1554791280 | 0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv | 8 | |||
rs367956522 | 0.851 | 0.240 | 13 | 51949798 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.7E-05 | 7 | |
rs78478128 | 0.851 | 0.160 | X | 154536168 | missense variant | G/C | snv | 1.7E-04 | 1.1E-04 | 7 | |
rs267607201 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 7 | |||
rs1565538350 | 0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv | 7 | |||
rs1057520247 | 0.882 | 0.200 | 13 | 32326591 | synonymous variant | C/T | snv | 7.0E-06 | 5 | ||
rs374019283 | 0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 | 5 | |
rs865862446 | 0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv | 5 | |||
rs200111236 | 0.882 | 0.200 | X | 154534463 | missense variant | G/A;C | snv | 2.8E-04; 5.5E-06 | 5 | ||
rs137853583 | 0.827 | 0.080 | 19 | 34394044 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 5 | ||
rs769013954 | 0.925 | 0.120 | 1 | 165682137 | missense variant | A/G | snv | 2.0E-05 | 4 | ||
rs572409834 | 0.925 | 0.120 | 1 | 165698515 | missense variant | C/T | snv | 4.2E-06 | 4 | ||
rs2230294 | 0.851 | 0.080 | 19 | 34393927 | missense variant | G/A;T | snv | 2.0E-04 | 4 | ||
rs1564875331 | 0.882 | 0.120 | 11 | 5226724 | frameshift variant | CATAA/TGATGCC | delins | 4 | |||
rs121912751 | 0.882 | 0.200 | 17 | 44251241 | missense variant | G/T | snv | 7.2E-05 | 2.1E-05 | 4 | |
rs33966487 | 0.925 | 0.040 | 11 | 5226588 | missense variant | C/G;T | snv | 2 |