Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3814896 | 0.882 | 0.080 | 21 | 42351602 | upstream gene variant | A/G | snv | 0.17 | 3 | ||
rs6912200 | 0.925 | 0.080 | 6 | 41750170 | intron variant | C/T | snv | 0.54 | 3 | ||
rs6939861 | 0.882 | 0.080 | 6 | 41735303 | intron variant | G/A | snv | 0.24 | 3 | ||
rs7521584 | 1.000 | 0.040 | 1 | 1168578 | upstream gene variant | T/A;G | snv | 3 | |||
rs9981660 | 0.882 | 0.080 | 21 | 42317828 | upstream gene variant | G/A | snv | 0.11 | 3 | ||
rs1042194 | 1.000 | 0.040 | 10 | 94735727 | 3 prime UTR variant | G/C;T | snv | 2 | |||
rs10505799 | 1.000 | 0.040 | 12 | 16293334 | intergenic variant | T/C | snv | 0.10 | 2 | ||
rs2014486 | 1.000 | 0.040 | 11 | 1237573 | intron variant | A/G | snv | 0.52 | 2 | ||
rs2920283 | 0.925 | 0.040 | 8 | 142675619 | intron variant | T/C | snv | 0.44 | 2 | ||
rs6878265 | 1.000 | 0.040 | 5 | 120069960 | intergenic variant | C/T | snv | 0.29 | 2 | ||
rs12423190 | 1.000 | 0.040 | 12 | 112471536 | intron variant | T/C | snv | 8.7E-02 | 1 | ||
rs1440526066 | 1.000 | 0.040 | 5 | 132679827 | missense variant | G/A | snv | 1 | |||
rs1886753 | 1.000 | 0.040 | 6 | 40359357 | non coding transcript exon variant | C/T | snv | 0.42 | 1 | ||
rs61516247 | 1.000 | 0.040 | 6 | 40344500 | non coding transcript exon variant | G/A | snv | 0.17 | 1 | ||
rs7747696 | 1.000 | 0.040 | 6 | 42093217 | non coding transcript exon variant | A/G | snv | 0.54 | 1 | ||
rs7749023 | 1.000 | 0.040 | 6 | 42093995 | non coding transcript exon variant | A/C;T | snv | 1 | |||
rs9315542 | 1.000 | 0.040 | 13 | 38057334 | intron variant | T/C | snv | 0.26 | 1 | ||
rs764097618 | 1.000 | 0.040 | 16 | 27360794 | splice donor variant | G/A | snv | 4.0E-06 | 1 | ||
rs254942 | 0.882 | 0.080 | 16 | 13932150 | splice region variant | G/A;C;T | snv | 0.97; 4.0E-06; 4.0E-06 | 3 | ||
rs765803011 | 1.000 | 0.040 | 16 | 27363094 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs121434254 | 0.807 | 0.200 | 21 | 44289773 | stop gained | C/A;T | snv | 7.5E-04 | 6 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs17276588 | 0.882 | 0.120 | X | 53557457 | intron variant | G/A | snv | 9.0E-02 | 4.2E-02 | 4 | |
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 30 |