Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1290923018 | 0.851 | 0.160 | 11 | 65570699 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs760943842 | 0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 | 5 | |
rs10235235 | 0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 | 3 | ||
rs16917302 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 5 | ||
rs1989839 | 0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 | 8 | |
rs1201911038 | 8 | 122953143 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1161255880 | 1.000 | 0.040 | 9 | 113044209 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs11177644 | 12 | 69391968 | downstream gene variant | A/G | snv | 0.40 | 1 | ||||
rs762471803 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 6 | |||
rs2131877 | 0.827 | 0.080 | 3 | 195137645 | intron variant | G/A | snv | 0.20 | 5 | ||
rs9288516 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 6 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs3213245 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 13 | |
rs377566281 | 0.925 | 0.080 | 19 | 43552083 | missense variant | C/T | snv | 5.6E-05 | 2.1E-05 | 3 | |
rs2257082 | 1.000 | 0.080 | 6 | 43524840 | synonymous variant | G/A | snv | 0.30 | 0.26 | 2 | |
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 9 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs760891242 | 0.925 | 0.080 | 3 | 14168309 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs1800975 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 19 | ||
rs2808668 | 0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv | 7 | |||
rs3176683 | 9 | 97686335 | intron variant | A/G | snv | 3.8E-02 | 1 | ||||
rs8371 | 0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 | 4 |