Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs371245265 | 1.000 | 0.080 | 7 | 91940884 | 5 prime UTR variant | CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG | delins | 1 | |||
rs771608420 | 1.000 | 0.080 | 7 | 92001217 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 1 | ||
rs4417206 | 1.000 | 0.080 | 10 | 95636713 | intron variant | A/C | snv | 0.28 | 1 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs13306190 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 7 | ||
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 43 | ||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 66 | |
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 47 | |
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 30 | ||
rs764929617 | 0.776 | 0.200 | 19 | 44907799 | missense variant | C/T | snv | 4.0E-06 | 8 | ||
rs199768005 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 4 | |
rs387906567 | 0.882 | 0.200 | 19 | 44908774 | missense variant | C/G;T | snv | 6.3E-06 | 4 | ||
rs1223904774 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs63750847 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 8 | |
rs63750734 | 0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv | 4 | |||
rs772069024 | 0.882 | 0.080 | 21 | 26021858 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs200620364 | 0.925 | 0.080 | 21 | 26021849 | missense variant | C/T | snv | 2 | |||
rs759223338 | 0.925 | 0.080 | 11 | 117291736 | synonymous variant | G/C | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs1060743 | 0.925 | 0.080 | 2 | 127068957 | synonymous variant | A/G | snv | 0.34 | 0.29 | 2 | |
rs138047593 | 1.000 | 0.080 | 2 | 127050470 | missense variant | T/C | snv | 9.2E-03 | 8.2E-03 | 1 | |
rs67327804 | 1.000 | 0.080 | 2 | 127069056 | intron variant | A/G | snv | 0.30 | 0.33 | 1 | |
rs754834233 | 1.000 | 0.080 | 2 | 127059060 | missense variant | G/A | snv | 4.1E-05 | 1 |