Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1057941 | 0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 | 18 | ||
rs11168936 | 0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv | 17 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs115392158 | 0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv | 17 | |||
rs115707823 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 19 | |||
rs11907546 | 0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv | 17 | |||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs12255372 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 28 | |||
rs12601991 | 0.708 | 0.280 | 17 | 37741642 | intron variant | T/A;G | snv | 17 | |||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs147527678 | 0.708 | 0.280 | 6 | 32699696 | intergenic variant | G/A;C | snv | 17 | |||
rs147680653 | 0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv | 17 | |||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1799977 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 28 | ||
rs1800440 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 29 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs212091 | 0.827 | 0.120 | 16 | 16142793 | 3 prime UTR variant | T/A;C | snv | 5 |