Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs880315 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 9 | ||
rs628117 | 0.925 | 0.120 | 1 | 107454484 | intron variant | C/T | snv | 0.56 | 2 | ||
rs2228315 | 0.807 | 0.120 | 12 | 108624122 | missense variant | C/T | snv | 0.11 | 0.14 | 7 | |
rs6698843 | 0.925 | 0.080 | 1 | 109264212 | synonymous variant | C/A;T | snv | 4.0E-06; 0.44 | 5 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs464218 | 0.925 | 0.080 | 1 | 109313684 | 3 prime UTR variant | G/A | snv | 0.43 | 2 | ||
rs3759387 | 0.925 | 0.080 | 12 | 109574662 | intron variant | G/T | snv | 0.31 | 2 | ||
rs2287218 | 0.851 | 0.080 | 12 | 109581533 | synonymous variant | C/T | snv | 0.16 | 0.17 | 4 | |
rs9925481 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 5 | |||
rs4771674 | 1.000 | 0.080 | 13 | 110386723 | intron variant | A/G | snv | 0.53 | 1 | ||
rs9515201 | 0.925 | 0.080 | 13 | 110388451 | intron variant | A/C | snv | 0.63 | 3 | ||
rs147270785 | 1.000 | 0.080 | 1 | 11046616 | missense variant | G/A | snv | 6.5E-04 | 6.4E-04 | 2 | |
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs8103309 | 1.000 | 0.080 | 19 | 11064259 | intron variant | T/C | snv | 0.40 | 2 | ||
rs75021220 | 0.882 | 0.120 | 4 | 110737238 | intergenic variant | C/A;T | snv | 3 | |||
rs2634074 | 1.000 | 0.080 | 4 | 110755885 | intergenic variant | T/A | snv | 0.66 | 1 | ||
rs1906591 | 0.851 | 0.200 | 4 | 110787733 | intergenic variant | G/A | snv | 0.15 | 5 | ||
rs2200733 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 12 | ||
rs13143308 | 0.882 | 0.120 | 4 | 110793263 | upstream gene variant | T/C;G | snv | 4 | |||
rs6843082 | 0.925 | 0.120 | 4 | 110796911 | non coding transcript exon variant | G/A | snv | 0.71 | 3 | ||
rs10033464 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 8 | ||
rs879254383 | 0.882 | 0.160 | 19 | 11089551 | start lost | G/A;T | snv | 4 | |||
rs879254405 | 0.882 | 0.160 | 19 | 11100255 | missense variant | T/G | snv | 5 | |||
rs267607213 | 0.851 | 0.160 | 19 | 11100286 | stop gained | G/A;T | snv | 6 | |||
rs875989898 | 0.851 | 0.200 | 19 | 11105220 | frameshift variant | C/-;CC | delins | 5 |