Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs678849 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 5 | ||
rs12043259 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 2 | ||||
rs2952621 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 4 | |||
rs2377339 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 2 | ||||
rs772527880 | 2 | 227531108 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1803274 | 0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 | 13 | |
rs3495 | 0.925 | 0.160 | 3 | 165773193 | 3 prime UTR variant | C/A;T | snv | 3 | |||
rs604300 | 1.000 | 0.080 | 3 | 127724009 | intron variant | A/G | snv | 0.91 | 3 | ||
rs230530 | 0.882 | 0.080 | 4 | 102532823 | intron variant | A/G | snv | 0.37 | 4 | ||
rs1040288 | 1.000 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 3 | ||
rs11503014 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 2 | ||
rs1875999 | 5 | 76969157 | 3 prime UTR variant | T/C | snv | 0.38 | 1 | ||||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs9444584 | 0.882 | 0.160 | 6 | 88152840 | intron variant | C/T | snv | 0.30 | 4 | ||
rs2180619 | 1.000 | 0.040 | 6 | 88168233 | upstream gene variant | G/A | snv | 0.53 | 3 | ||
rs9450898 | 0.925 | 0.160 | 6 | 88154344 | intron variant | C/T | snv | 0.21 | 3 | ||
rs1212415280 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 2 | ||||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs17228616 | 1.000 | 0.080 | 7 | 100890100 | 3 prime UTR variant | G/T | snv | 9.8E-02 | 3 |