Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131498 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 13 | |
rs536289169 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 13 | ||
rs7528419 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 13 | ||
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs12041331 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 11 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 11 | ||
rs3093059 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 11 | ||
rs1343151 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 10 | ||
rs5174 | 0.776 | 0.240 | 1 | 53247055 | missense variant | C/T | snv | 0.29 | 0.28 | 10 | |
rs689470 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs562556 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 8 | |
rs1234314 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 7 | |||
rs1255283120 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs1312546120 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs1234313 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 6 | ||
rs12746200 | 0.851 | 0.160 | 1 | 186880054 | intron variant | A/G | snv | 7.3E-02 | 6 | ||
rs2453021 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 6 | |||
rs5177 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 6 | |||
rs564427867 | 0.807 | 0.160 | 1 | 55039931 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 6 | |
rs10920501 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 5 | ||
rs2067853 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 5 | ||
rs371237692 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs5051 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 5 |