Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9298814 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 7 | ||
rs9420907 | 0.790 | 0.320 | 10 | 103916707 | intron variant | C/A;G | snv | 7 | |||
rs10766197 | 0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv | 6 | |||
rs2229238 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 5 | ||
rs3731865 | 0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 | 5 | ||
rs11045819 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 4 | ||
rs2723176 | 0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv | 4 | |||
rs3242 | 0.851 | 0.160 | 8 | 41262035 | 3 prime UTR variant | G/A;C | snv | 4 | |||
rs8177400 | 0.882 | 0.160 | 11 | 126292695 | missense variant | G/A;C;T | snv | 2.8E-03; 1.2E-05 | 4 | ||
rs1131454 | 0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 | 3 | ||
rs1405655 | 0.925 | 0.120 | 19 | 50379362 | intron variant | T/C;G | snv | 3 | |||
rs3809849 | 0.882 | 0.120 | 17 | 4555303 | missense variant | G/C;T | snv | 0.21; 3.1E-05 | 3 | ||
rs386699558 | 0.882 | 0.080 | 6 | 32642624 | missense variant | GCC/ACA | mnv | 3 | |||
rs3923647 | 0.925 | 0.080 | 4 | 38797918 | missense variant | T/A;C;G | snv | 2.7E-02; 4.0E-06; 1.6E-05 | 3 | ||
rs7749390 | 0.882 | 0.120 | 6 | 137219233 | 5 prime UTR variant | A/G;T | snv | 0.43; 4.4E-06 | 3 | ||
rs1052632 | 0.925 | 0.080 | 1 | 181051094 | non coding transcript exon variant | G/A;C | snv | 2 | |||
rs1344800847 | 0.925 | 0.120 | 1 | 207569911 | missense variant | G/T | snv | 2 | |||
rs1474798132 | 0.925 | 0.120 | 7 | 99665170 | synonymous variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs1650232 | 1.000 | 0.040 | 10 | 79559511 | splice region variant | C/A;T | snv | 3.6E-03; 0.71 | 2 | ||
rs2248949 | 0.925 | 0.120 | 19 | 50378912 | non coding transcript exon variant | A/G;T | snv | 2 | |||
rs34448891 | 0.925 | 0.160 | 2 | 218381927 | upstream gene variant | TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG | delins | 2 | |||
rs35037722 | 0.925 | 0.040 | 17 | 78355453 | upstream gene variant | G/A;C | snv | 2 | |||
rs3738467 | 0.925 | 0.120 | 1 | 207552816 | missense variant | G/T | snv | 1.4E-03 | 2 | ||
rs3758673 | 0.925 | 0.120 | 11 | 47257366 | intron variant | C/G;T | snv | 2 | |||
rs401502 | 0.925 | 0.040 | 19 | 18069603 | missense variant | C/A;G;T | snv | 0.28; 3.2E-05 | 2 |