Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1247325511 | 0.925 | 0.120 | 1 | 203217007 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1141814 | 0.925 | 0.120 | 1 | 155239934 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 2 | |
rs1161552095 | 0.925 | 0.120 | 1 | 155236307 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs121908295 | 0.925 | 0.120 | 1 | 155235708 | missense variant | G/C | snv | 2 | |||
rs121908309 | 0.925 | 0.120 | 1 | 155236277 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs121908313 | 0.925 | 0.120 | 1 | 155237470 | missense variant | G/T | snv | 2 | |||
rs1237637353 | 0.925 | 0.120 | 1 | 155237579 | splice acceptor variant | C/G | snv | 4.0E-06 | 2 | ||
rs147138516 | 0.925 | 0.120 | 1 | 155238570 | missense variant | C/G;T | snv | 1.4E-04; 4.0E-06 | 2 | ||
rs1553217294 | 0.925 | 0.120 | 1 | 155236417 | missense variant | C/G | snv | 2 | |||
rs398123526 | 0.925 | 0.120 | 1 | 155236409 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs74598136 | 0.925 | 0.120 | 1 | 155235750 | missense variant | G/A | snv | 2 | |||
rs747409352 | 0.925 | 0.120 | 1 | 155238625 | synonymous variant | T/A | snv | 1.2E-04 | 2.8E-05 | 2 | |
rs76725886 | 0.925 | 0.120 | 1 | 155237531 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
rs773409311 | 0.925 | 0.120 | 1 | 155238186 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs77829017 | 0.925 | 0.120 | 1 | 155239939 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs78769774 | 0.925 | 0.120 | 1 | 155239933 | missense variant | C/T | snv | 2 | |||
rs79796061 | 0.925 | 0.120 | 1 | 155238608 | missense variant | T/A | snv | 8.0E-06 | 2.8E-05 | 2 | |
rs80205046 | 0.925 | 0.120 | 1 | 155238233 | missense variant | G/A | snv | 2 | |||
rs2297950 | 0.882 | 0.200 | 1 | 203225058 | missense variant | C/T | snv | 0.31 | 0.30 | 3 | |
rs1553217009 | 0.882 | 0.120 | 1 | 155235757 | missense variant | C/T | snv | 3 | |||
rs367968666 | 0.882 | 0.120 | 1 | 155237458 | missense variant | A/C | snv | 2.4E-04 | 1.6E-04 | 3 | |
rs439898 | 0.882 | 0.120 | 1 | 155238630 | missense variant | G/A | snv | 2.8E-05 | 3 | ||
rs535896234 | 0.882 | 0.120 | 1 | 155237399 | missense variant | T/C | snv | 1.8E-04 | 3.5E-05 | 3 | |
rs80356763 | 0.882 | 0.120 | 1 | 155238596 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 3 | ||
rs80356768 | 0.882 | 0.120 | 1 | 155235750 | frameshift variant | ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- | delins | 3 |