Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1440530084 | 0.882 | 0.040 | 17 | 42563227 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs598126 | 0.925 | 0.080 | 17 | 42564502 | synonymous variant | A/G | snv | 0.53 | 0.50 | 2 | |
rs746673818 | 17 | 42562625 | start lost | G/A | snv | 2 | |||||
rs764492939 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 2 | |||
rs148652390 | 1.000 | 0.080 | 17 | 42564085 | synonymous variant | C/A;G;T | snv | 1.7E-04; 1.6E-03 | 1 | ||
rs1567904066 | 1.000 | 17 | 42563263 | missense variant | C/T | snv | 1 | ||||
rs587777136 | 1.000 | 17 | 42562797 | stop gained | C/T | snv | 1 | ||||
rs668799 | 17 | 42564217 | non coding transcript exon variant | C/T | snv | 0.28 | 0.24 | 1 | |||
rs761347168 | 1.000 | 17 | 42563226 | missense variant | C/T | snv | 8.0E-06 | 1 | |||
rs140709867 | 1.000 | 17 | 42565668 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 1 | |||
rs577714887 | 1.000 | 17 | 42565656 | splice region variant | C/G | snv | 8.4E-05 | 7.0E-06 | 1 | ||
rs766482965 | 1.000 | 17 | 42565720 | frameshift variant | AG/- | delins | 1.2E-05 | 2.1E-05 | 1 |