Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1002658 | 1.000 | 0.120 | 6 | 137660447 | intron variant | C/T | snv | 0.15 | 1 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1046089 | 0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 | 4 | |
rs1057035 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 12 | ||
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs10881578 | 0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 | 2 | ||
rs11039155 | 0.827 | 0.400 | 11 | 47259211 | 5 prime UTR variant | G/A | snv | 0.14 | 0.12 | 6 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs11715604 | 0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv | 4 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121964877 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 5 | |||
rs1244186 | 1.000 | 0.120 | 10 | 8050720 | non coding transcript exon variant | T/A;C | snv | 1 | |||
rs12488654 | 0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 | 2 | ||
rs12621278 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 7 | ||
rs12638862 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 10 | ||
rs12711846 | 0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 | 4 | ||
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs131821 | 0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins | 4 | |||
rs13195441 | 0.925 | 0.200 | 6 | 32775521 | intergenic variant | G/A | snv | 0.30 | 2 | ||
rs13255292 | 0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 | 2 | ||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1432295 | 1.000 | 0.120 | 2 | 60839531 | intron variant | G/A | snv | 0.69 | 1 | ||
rs149207840 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 4 |