Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs36010656 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 4 | ||
rs1042718 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 3 | ||
rs1553315329 | 2 | 32116153 | stop gained | C/A;T | snv | 3 | |||||
rs387907170 | 0.925 | 0.080 | 4 | 158703436 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs756877019 | 1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 | 3 | |||
rs3766246 | 1 | 46399999 | intron variant | A/C;G | snv | 2 | |||||
rs3783642 | 14 | 54893485 | intron variant | T/A;C | snv | 2 | |||||
rs3740071 | 10 | 99830363 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs574584 | 8 | 26866167 | intron variant | C/G;T | snv | 1 | |||||
rs949060 | 18 | 77246982 | upstream gene variant | C/A;G | snv | 1 | |||||
rs9658498 | 12 | 117230720 | intron variant | A/C;G | snv | 1 | |||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs199682734 | 6 | 154118718 | synonymous variant | C/T | snv | 8.1E-06 | 7.0E-06 | 1 | |||
rs570874680 | 5 | 40764955 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 | 1 | |||
rs551423795 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 4 | |
rs267606640 | 0.882 | 0.120 | 1 | 99913557 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 5 | |
rs139194636 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 6 | |
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1082214 | 0.925 | 0.080 | 12 | 56452706 | non coding transcript exon variant | C/T | snv | 9.3E-02 | 6 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs2287396 | 14 | 77327849 | non coding transcript exon variant | C/T | snv | 0.15 | 1 | ||||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 |