Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1494555 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 8 | |
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs13254990 | 0.882 | 0.120 | 8 | 128064205 | intron variant | C/T | snv | 0.24 | 4 | ||
rs587781386 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 3 | ||
rs764562217 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 3 | |
rs8094402 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 3 | ||
rs17749561 | 0.925 | 0.120 | 18 | 63115978 | intergenic variant | G/A | snv | 5.9E-02 | 2 | ||
rs2855429 | 0.925 | 0.120 | 6 | 33190412 | intron variant | A/C | snv | 0.78 | 2 | ||
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs587776632 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 2 | |||
rs6444305 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 2 | |||
rs1159838942 | 1.000 | 0.120 | 11 | 36574757 | missense variant | C/A;T | snv | 1 | |||
rs13198610 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 1 | ||
rs1493202 | 1.000 | 0.120 | 8 | 70993352 | intron variant | T/G | snv | 0.41 | 1 | ||
rs28530648 | 1.000 | 0.120 | 6 | 32559302 | intron variant | A/C;T | snv | 1 | |||
rs28605404 | 1.000 | 0.120 | 6 | 32601910 | intergenic variant | A/G | snv | 0.10 | 1 | ||
rs28895078 | 1.000 | 0.120 | 6 | 32450114 | intergenic variant | C/A;G | snv | 0.13 | 1 | ||
rs28895103 | 1.000 | 0.120 | 6 | 32451687 | intergenic variant | G/A | snv | 0.13 | 1 | ||
rs28895171 | 1.000 | 0.120 | 6 | 32455244 | downstream gene variant | G/A | snv | 0.13 | 1 | ||
rs28895187 | 1.000 | 0.120 | 6 | 32456603 | downstream gene variant | G/A | snv | 0.13 | 1 | ||
rs2894253 | 1.000 | 0.120 | 6 | 32377763 | intron variant | T/G | snv | 1.0E-01 | 1 | ||
rs35571839 | 1.000 | 0.120 | 6 | 32544836 | intergenic variant | C/T | snv | 0.11 | 1 | ||
rs35998847 | 1.000 | 0.120 | 6 | 32699220 | intergenic variant | G/A | snv | 0.14 | 1 | ||
rs372411058 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 1 | |
rs4760655 | 1.000 | 0.120 | 12 | 47900348 | intron variant | G/A | snv | 0.72 | 1 |