Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17070145 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 10 | ||
rs10073892 | 5 | 102391066 | non coding transcript exon variant | T/C | snv | 0.24 | 0.21 | 1 | |||
rs2973488 | 5 | 11043805 | intron variant | A/T | snv | 0.19 | 1 | ||||
rs7700443 | 5 | 85876294 | intergenic variant | T/G | snv | 0.57 | 1 | ||||
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs1143684 | 0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 | 4 | |
rs1187120 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 3 | ||
rs1206642175 | 0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 | 3 | ||
rs6910730 | 0.925 | 0.080 | 6 | 41278895 | intron variant | A/G | snv | 0.21 | 3 | ||
rs7759295 | 1.000 | 0.040 | 6 | 41168112 | upstream gene variant | C/G;T | snv | 2 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs375752214 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 22 | |
rs747105516 | 0.851 | 0.120 | 7 | 56015139 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs8191664 | 0.807 | 0.200 | 8 | 11786044 | missense variant | G/A;C;T | snv | 4.0E-05; 3.8E-02 | 7 | ||
rs16885997 | 8 | 114496877 | intergenic variant | G/T | snv | 3.5E-02 | 1 | ||||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs10512015 | 9 | 73166330 | intron variant | T/C | snv | 9.9E-02 | 1 | ||||
rs73643144 | 9 | 27126454 | intron variant | T/C | snv | 3.5E-02 | 1 | ||||
rs761715536 | 1.000 | 0.040 | 10 | 111079092 | stop gained | G/A;T | snv | 6.4E-06; 1.3E-05 | 3 | ||
rs1554950703 | 1.000 | 0.200 | 10 | 122489463 | missense variant | C/G | snv | 2 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 |