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 | |
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs12894467 | 0.807 | 0.080 | 14 | 101041390 | non coding transcript exon variant | C/T | snv | 0.51 | 0.50 | 6 | |
rs171140 | 0.807 | 0.080 | 19 | 45361744 | non coding transcript exon variant | C/A | snv | 0.58 | 0.64 | 6 | |
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs217727 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 34 | ||
rs1047768 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 20 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs3213245 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 13 | |
rs9895829 | 0.807 | 0.080 | 17 | 7675361 | 5 prime UTR variant | A/G | snv | 7.4E-02 | 6 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 |