Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 18 | |||
rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 15 | |||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 18 | |||
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 17 | |||
rs1057519877 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 10 | |||
rs1057519879 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 10 | |||
rs530941076 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 20 | ||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 16 | |||
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 | ||
rs786203436 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 15 | |||
rs985033810 | 0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv | 16 | |||
rs1057520003 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 20 | |||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 28 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs587780070 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 23 | ||
rs864622237 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 17 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 24 | ||
rs148924904 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 17 | ||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs876660754 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 18 | |||
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 17 | |||
rs786201057 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 24 |