Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13389219 | 1.000 | 0.080 | 2 | 164672366 | intron variant | C/T | snv | 0.47 | 9 | ||
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs7607980 | 1.000 | 0.080 | 2 | 164694691 | missense variant | T/C | snv | 0.11 | 0.13 | 8 | |
rs7578326 | 0.882 | 0.080 | 2 | 226155937 | TF binding site variant | A/G | snv | 0.36 | 7 | ||
rs3792267 | 0.882 | 0.200 | 2 | 240591757 | non coding transcript exon variant | G/A | snv | 0.23 | 4 | ||
rs2975760 | 1.000 | 0.080 | 2 | 240591746 | non coding transcript exon variant | T/C | snv | 0.12 | 3 | ||
rs5030952 | 0.925 | 0.160 | 2 | 240603286 | intron variant | C/G;T | snv | 3 | |||
rs1050800 | 2 | 11825688 | 3 prime UTR variant | C/T | snv | 0.12 | 1 | ||||
rs7598922 | 2 | 38855202 | missense variant | T/C | snv | 0.62 | 0.54 | 1 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs11708067 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 9 | ||
rs10804591 | 3 | 129615390 | intergenic variant | C/A | snv | 0.63 | 5 | ||||
rs1470579 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 5 | ||
rs184187143 | 0.882 | 0.200 | 3 | 48628699 | missense variant | C/A;G | snv | 1.8E-03 | 1.6E-03 | 4 | |
rs7612463 | 0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv | 3 | |||
rs275645 | 3 | 148746667 | downstream gene variant | G/A | snv | 0.43 | 1 | ||||
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 38 | ||
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs2119882 | 0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 | 9 | ||
rs10010131 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 7 |