Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs4810485 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 16 | |||
rs121913521 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 12 | |||
rs2297235 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 11 | ||
rs876661024 | 0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv | 11 | |||
rs3024496 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 6 | ||
rs842647 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 6 | ||
rs1540087 | 1.000 | 0.080 | 11 | 72190447 | 5 prime UTR variant | G/A | snv | 3.8E-02 | 2 | ||
rs2278952 | 1.000 | 0.080 | 17 | 17582270 | 5 prime UTR variant | G/A | snv | 5.4E-02 | 2 | ||
rs9527 | 10 | 102863821 | 3 prime UTR variant | C/T | snv | 0.21 | 2 | ||||
rs11191979 | 10 | 104265109 | intron variant | T/C | snv | 0.23 | 1 | ||||
rs12919719 | 16 | 68788438 | intron variant | C/G | snv | 0.25 | 1 | ||||
rs3790064 | 14 | 20472910 | non coding transcript exon variant | A/G;T | snv | 1 | |||||
rs7196495 | 16 | 68739957 | intron variant | C/G;T | snv | 1 | |||||
rs7196661 | 16 | 68740009 | intron variant | C/T | snv | 0.80 | 1 | ||||
rs9989407 | 16 | 68730609 | intergenic variant | C/A;G;T | snv | 1 | |||||
rs771656368 | 0.925 | 0.200 | 7 | 92241059 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs897453 | 1.000 | 0.080 | 17 | 17522317 | missense variant | C/A;G;T | snv | 8.0E-06; 0.34 | 2 |