Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10036748 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 11 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 42 | |||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs11777210 | 1.000 | 0.080 | 8 | 1979843 | intron variant | C/G;T | snv | 2 | |||
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 8 | |||
rs121913240 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 19 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 29 | |||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 14 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 19 | |||
rs12255372 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 26 | |||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs13278062 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 8 | |||
rs1374712964 | 1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv | 2 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 28 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 117 | |||
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 | ||
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs2015 | 0.925 | 0.120 | 19 | 38878729 | 3 prime UTR variant | T/G | snv | 0.47 | 3 | ||
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs2276466 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 15 |