Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs61750420 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 52 | |
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs7493 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 24 | |
rs771676129 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 7 | ||
rs999947969 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 7 | |||
rs12155400 | 7 | 18389298 | intron variant | A/G | snv | 2.9E-02 | 2 | ||||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1249719 | 1.000 | 0.120 | 9 | 114235944 | intron variant | G/A | snv | 6.8E-02 | 2 | ||
rs11196205 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 7 | |||
rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 22 | |
rs121918284 | 0.882 | 0.080 | 11 | 61955892 | missense variant | G/A | snv | 5.2E-04 | 3.3E-04 | 5 | |
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs1282382243 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 8 | |||
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs3751624 | 1.000 | 0.120 | 15 | 52282973 | intron variant | C/T | snv | 0.20 | 2 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs763544450 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
rs774038422 | 1.000 | 0.080 | 21 | 38391009 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs137853298 | 0.925 | 0.080 | 22 | 32859351 | missense variant | A/T | snv | 3 |