Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 13 | |
rs630379 | 0.882 | 0.200 | 6 | 31954477 | intron variant | A/C | snv | 0.77 | 0.79 | 3 | |
rs535586 | 0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 | 3 | ||
rs659445 | 0.882 | 0.160 | 6 | 31896527 | intron variant | G/A;C | snv | 0.77 | 0.76 | 3 | |
rs437179 | 0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 | 3 | |
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 2 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 5 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 1 | |
rs3803800 | 0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 | 2 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 1 | |
rs7192 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 3 | |
rs9268832 | 0.882 | 0.160 | 6 | 32460012 | non coding transcript exon variant | T/C | snv | 0.61 | 0.59 | 4 | |
rs592229 | 1.000 | 0.080 | 6 | 31962664 | intron variant | G/A;C;T | snv | 4.0E-06; 4.5E-05; 0.61 | 1 | ||
rs660550 | 0.882 | 0.160 | 6 | 31869500 | intron variant | C/A;G | snv | 0.60 | 3 | ||
rs2242665 | 0.882 | 0.160 | 6 | 31871532 | missense variant | C/T | snv | 0.60 | 0.60 | 3 | |
rs644827 | 0.882 | 0.160 | 6 | 31870664 | missense variant | T/C | snv | 0.60 | 0.60 | 3 | |
rs185819 | 0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 | 8 | ||
rs763361 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 4 | ||
rs2239804 | 0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 | 5 | ||
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 4 | |
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 2 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 5 | ||
rs494620 | 0.925 | 0.120 | 6 | 31870936 | stop gained | G/A;T | snv | 0.44; 4.1E-06 | 3 | ||
rs2076530 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 5 | |
rs602662 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 1 |