Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200922190 | 1.000 | 0.040 | 1 | 193234361 | intron variant | -/ATAATT | delins | 0.16 | 1 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs71361504 | 0.925 | 0.120 | 17 | 43125988 | intron variant | -/GTT | delins | 2 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs7201 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 4 | ||
rs7041895 | 1.000 | 0.040 | 9 | 22162795 | intergenic variant | A/C | snv | 0.47 | 3 | ||
rs10859871 | 1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 | 2 | ||
rs1750034 | 1.000 | 0.040 | 6 | 158059112 | intron variant | A/C | snv | 0.88 | 1 | ||
rs6546324 | 1.000 | 0.040 | 2 | 67629358 | intron variant | A/C | snv | 0.71 | 1 | ||
rs12720356 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 12 | ||
rs756384853 | 1.000 | 0.040 | 11 | 35229167 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10953316 | 1.000 | 0.040 | 7 | 101038481 | synonymous variant | A/C;G;T | snv | 8.0E-06; 0.64 | 1 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs2237895 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 10 | |||
rs3756712 | 0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv | 10 | |||
rs4980524 | 0.882 | 0.080 | 11 | 64191787 | intron variant | A/C;T | snv | 3 | |||
rs625879 | 0.925 | 0.080 | 5 | 79085866 | intron variant | A/C;T | snv | 0.52 | 2 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 |