Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs16969968 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 37 | |
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs4290270 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 17 | |
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 | ||
rs806368 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 14 | ||
rs2283265 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 12 | ||
rs1108580 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 9 | |
rs2235749 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 7 | ||
rs4795541 | 0.807 | 0.200 | 17 | 30237299 | upstream gene variant | A/G | snv | 7 | |||
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs1126671 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 5 | |
rs684513 | 0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv | 5 | |||
rs6454674 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 5 | ||
rs1079597 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 5 | ||
rs2234918 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 5 | |
rs678849 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 5 | ||
rs13273442 | 0.882 | 0.080 | 8 | 42688874 | intergenic variant | A/G | snv | 0.66 | 4 | ||
rs2952621 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 4 | |||
rs1042363 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 4 | |||
rs2629540 | 0.925 | 0.080 | 10 | 124737579 | intron variant | G/C | snv | 0.18 | 4 | ||
rs10052957 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 4 | ||
rs111325002 | 1.000 | 0.080 | 3 | 96134788 | intergenic variant | A/G | snv | 8.6E-03 | 2 |