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 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 21 | ||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
rs1353759920 | 0.851 | 0.120 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 4 | ||
rs121908689 | 0.925 | 0.120 | 1 | 46272758 | missense variant | T/A | snv | 2 | |||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs63750042 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 6 | ||
rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
rs121909775 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
rs28936699 | 1.000 | 0.120 | 2 | 201209388 | missense variant | C/T | snv | 1 | |||
rs398122800 | 1.000 | 0.120 | 2 | 201209189 | frameshift variant | -/A | ins | 1 | |||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 |