Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs428785 | 0.882 | 0.040 | 21 | 26844276 | missense variant | C/A;G;T | snv | 1.3E-05; 0.70 | 0.78 | 3 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs216311 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 7 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs2838344 | 1.000 | 0.040 | 21 | 43669996 | intron variant | G/A | snv | 0.65 | 0.58 | 1 | |
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 11 | ||
rs1801693 | 1.000 | 0.040 | 6 | 160548597 | missense variant | A/C;G | snv | 4.0E-06; 0.64 | 1 | ||
rs67180937 | 1.000 | 0.040 | 1 | 222650401 | intron variant | T/C;G | snv | 0.64 | 1 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1208 | 0.807 | 0.080 | 8 | 18400806 | missense variant | G/A;T | snv | 0.62; 4.0E-06 | 8 | ||
rs5882 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 35 | ||
rs2571445 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 10 | ||
rs7195830 | 0.851 | 0.080 | 16 | 88643304 | 3 prime UTR variant | A/G | snv | 0.62 | 0.69 | 6 | |
rs948847 | 1.000 | 0.040 | 11 | 57236870 | synonymous variant | G/A;T | snv | 0.59 | 2 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1132899 | 1.000 | 0.040 | 19 | 44944779 | missense variant | T/C | snv | 0.59 | 0.59 | 1 | |
rs5888 | 0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 | 11 | ||
rs679620 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 17 | |
rs1801198 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 26 | ||
rs3746731 | 0.925 | 0.040 | 20 | 23084572 | missense variant | G/A | snv | 0.57 | 0.50 | 2 |