Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs917570055 | 0.882 | 0.360 | 19 | 547342 | start lost | A/G | snv | 7 | |||
rs917411291 | 0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv | 9 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs876659156 | 5 | 112839714 | missense variant | G/A | snv | 1 | |||||
rs876658923 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 3 | |||
rs869320694 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 16 | |||
rs863224683 | 17 | 7675224 | missense variant | G/A;C | snv | 4 | |||||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs786202724 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs786202567 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 | |
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs767606327 | 4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs763351020 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 35 | ||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs730882025 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 21 | |||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs6886 | 0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 | 4 | ||
rs6842 | 7 | 16794973 | missense variant | A/G;T | snv | 0.43 | 0.38 | 1 | |||
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs587779383 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 5 |