Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs1805329 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 15 | |
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 7 | |
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4938573 | 0.851 | 0.280 | 11 | 118871133 | regulatory region variant | C/T | snv | 0.79 | 4 | ||
rs735665 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 8 | ||
rs13254990 | 0.882 | 0.120 | 8 | 128064205 | intron variant | C/T | snv | 0.24 | 4 | ||
rs4937362 | 0.827 | 0.240 | 11 | 128622844 | intron variant | T/C | snv | 0.49 | 5 | ||
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs2308321 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 29 | |
rs2308327 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 10 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs12355840 | 0.827 | 0.240 | 10 | 133247608 | non coding transcript exon variant | C/G;T | snv | 1.1E-04; 0.80 | 5 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs6054706 | 1.000 | 0.120 | 20 | 149223 | downstream gene variant | C/A;T | snv | 1 | |||
rs3020314 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 7 | |||
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs1308699981 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs372411058 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 1 | |
rs1392080411 | 0.827 | 0.160 | 19 | 16325934 | missense variant | C/T | snv | 7.0E-06 | 5 | ||
rs12717 | 0.925 | 0.160 | 6 | 170553212 | missense variant | G/C | snv | 0.42 | 0.38 | 2 | |
rs6444305 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 2 |