Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs55703767 | 0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 | 3 | ||
rs11886047 | 1.000 | 0.120 | 2 | 43623451 | upstream gene variant | T/A;C | snv | 0.20 | 1 | ||
rs4667466 | 1.000 | 0.120 | 2 | 162832637 | intron variant | T/C | snv | 0.52 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 19 | ||
rs17300539 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 11 | ||
rs2082940 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs2241767 | 0.763 | 0.440 | 3 | 186853407 | intron variant | A/G | snv | 0.10 | 10 | ||
rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 | ||
rs11915160 | 0.851 | 0.200 | 3 | 181713783 | 3 prime UTR variant | C/A | snv | 0.11 | 5 | ||
rs2120243 | 0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 | 3 | ||
rs2305619 | 0.882 | 0.240 | 3 | 157437072 | intron variant | A/G | snv | 0.55 | 0.50 | 3 | |
rs3773885 | 0.925 | 0.200 | 3 | 155141792 | intron variant | G/A | snv | 0.33 | 2 | ||
rs3796268 | 0.925 | 0.200 | 3 | 155117435 | intron variant | T/C | snv | 0.30 | 2 | ||
rs11130362 | 1.000 | 0.120 | 3 | 53231750 | non coding transcript exon variant | C/T | snv | 0.24 | 1 | ||
rs1249910 | 1.000 | 0.120 | 3 | 112672327 | intergenic variant | A/G | snv | 0.58 | 1 | ||
rs17471 | 1.000 | 0.120 | 3 | 120098826 | non coding transcript exon variant | A/T | snv | 6.3E-02 | 1 |