Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1556995 | 1.000 | 0.040 | 6 | 101869470 | intron variant | C/A;T | snv | 1 | |||
rs1417182 | 1.000 | 0.040 | 6 | 101885466 | intron variant | G/A | snv | 0.40 | 1 | ||
rs3758987 | 0.925 | 0.080 | 11 | 113904553 | upstream gene variant | T/C | snv | 0.32 | 4 | ||
rs1176744 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 19 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4401971 | 1.000 | 0.040 | 9 | 11890045 | intron variant | A/C;G;T | snv | 1 | |||
rs1000592 | 1.000 | 0.040 | 2 | 118939624 | upstream gene variant | C/A | snv | 6.4E-03 | 1 | ||
rs4271390 | 0.925 | 0.120 | 11 | 119655426 | intron variant | T/C | snv | 0.68 | 2 | ||
rs6131293 | 1.000 | 0.040 | 20 | 12014779 | intergenic variant | A/G | snv | 0.79 | 1 | ||
rs6131295 | 1.000 | 0.040 | 20 | 12015619 | regulatory region variant | G/A;C | snv | 1 | |||
rs6109227 | 1.000 | 0.040 | 20 | 12018497 | intergenic variant | A/T | snv | 0.79 | 1 | ||
rs4825476 | 0.925 | 0.040 | X | 123307628 | intron variant | G/A;C | snv | 2 | |||
rs1805477 | 0.882 | 0.080 | 12 | 13561795 | 3 prime UTR variant | T/A;C;G | snv | 3 | |||
rs28696717 | 1.000 | 0.040 | 1 | 153493087 | intergenic variant | A/G | snv | 0.18 | 1 | ||
rs1799972 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 6 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1477437491 | 0.925 | 0.040 | 1 | 162367213 | missense variant | G/A | snv | 2.8E-05 | 2 | ||
rs4387163 | 1.000 | 0.040 | 1 | 165026476 | intergenic variant | G/A | snv | 0.44 | 1 | ||
rs56151798 | 1.000 | 0.040 | 11 | 18022863 | synonymous variant | A/G | snv | 6.0E-03 | 6.4E-03 | 1 | |
rs6443930 | 1.000 | 0.040 | 3 | 184036506 | splice donor variant | G/A;C;T | snv | 0.46; 8.0E-06 | 1 | ||
rs7628229 | 1.000 | 0.040 | 3 | 184036872 | missense variant | C/G;T | snv | 6.4E-06; 2.7E-03 | 9.5E-03 | 1 | |
rs1000952 | 1.000 | 0.040 | 3 | 184038034 | missense variant | G/A;C;T | snv | 0.66; 3.6E-05; 4.0E-06 | 1 | ||
rs6766410 | 1.000 | 0.040 | 3 | 184056974 | missense variant | C/A;T | snv | 0.45; 4.0E-06 | 2 | ||
rs1265692223 | 1.000 | 0.040 | 3 | 184100530 | missense variant | A/G | snv | 4.0E-06 | 1 |