Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs821616 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 13 | |
rs28936379 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 10 | ||
rs5177 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 6 | |||
rs373288445 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 3 | |
rs773758385 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 3 | |
rs200754713 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 2 | ||||
rs35369693 | 1 | 206116696 | missense variant | C/G;T | snv | 4.3E-02 | 2 | ||||
rs121918805 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 4 | ||
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs2535629 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 9 | |||
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs1126647 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 8 | ||
rs279858 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 8 | |
rs279871 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 5 | ||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 |