Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
rs59332535 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 5 | |||
rs58932704 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 4 | |||
rs60458016 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 4 | |||
rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 3 | |||
rs199474724 | 0.851 | 0.120 | 1 | 156134839 | missense variant | G/A | snv | 2 | |||
rs1553264624 | 1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 1 | |||
rs1553265369 | 1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins | 1 | |||
rs1553265433 | 1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv | 1 | |||
rs1553265436 | 1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins | 1 | |||
rs1553265761 | 1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins | 1 | |||
rs267607576 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 1 | ||
rs267607634 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 1 | |||
rs267607644 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 1 | |||
rs367543077 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 1 | |||
rs57207746 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 1 | |||
rs769561386 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs780302064 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 1 | ||
rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
rs200916654 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 4 | ||
rs549794342 | 0.925 | 0.120 | 2 | 151501423 | stop gained | G/A | snv | 2.7E-04 | 3.0E-04 | 4 | |
rs1553555585 | 0.925 | 0.120 | 2 | 71570335 | splice donor variant | G/T | snv | 2 |