Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1563145763 | 1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv | 1 | |||
rs796052199 | 1.000 | 0.120 | 7 | 92002212 | missense variant | T/A | snv | 1 | |||
rs796052200 | 1.000 | 0.120 | 7 | 92045186 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
rs1408198357 | 1.000 | 0.120 | 4 | 113373391 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs755287627 | 1.000 | 0.120 | 4 | 113353494 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs796052197 | 1.000 | 0.120 | 4 | 113354767 | missense variant | T/C | snv | 1 | |||
rs796052198 | 1.000 | 0.120 | 4 | 113356741 | missense variant | T/C | snv | 1 | |||
rs750835733 | 1.000 | 0.120 | 12 | 2593252 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs786205748 | 1.000 | 0.120 | 12 | 2566465 | missense variant | C/T | snv | 1 | |||
rs1343191564 | 1.000 | 0.120 | 12 | 2688616 | missense variant | G/A | snv | 1 | |||
rs377564636 | 1.000 | 0.120 | 12 | 2679529 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs749945590 | 1.000 | 0.120 | 12 | 2688601 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs1085307479 | 1.000 | 0.120 | 14 | 90404691 | missense variant | T/C | snv | 1 | |||
rs1060502318 | 1.000 | 0.120 | 3 | 8733882 | frameshift variant | GG/- | del | 7.0E-06 | 1 | ||
rs796052171 | 1.000 | 0.120 | 3 | 8733913 | missense variant | A/T | snv | 1 | |||
rs1131691762 | 1.000 | 0.120 | 21 | 34449622 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
rs1555843953 | 1.000 | 0.120 | 21 | 34449430 | frameshift variant | TGGA/- | del | 1 | |||
rs199473354 | 1.000 | 0.120 | 21 | 34449481 | missense variant | C/T | snv | 1 | |||
rs1057517742 | 1.000 | 0.120 | 7 | 150958430 | stop gained | G/C;T | snv | 1 | |||
rs1057520558 | 1.000 | 0.120 | 7 | 150947453 | stop gained | G/C | snv | 1 | |||
rs1057520598 | 1.000 | 0.120 | 7 | 150959738 | splice acceptor variant | T/C | snv | 1 | |||
rs1060500661 | 1.000 | 0.120 | 7 | 150951698 | frameshift variant | G/- | delins | 1 | |||
rs1060500662 | 1.000 | 0.120 | 7 | 150950200 | frameshift variant | -/TC | delins | 1 | |||
rs1060500670 | 1.000 | 0.120 | 7 | 150959642 | frameshift variant | C/- | del | 1 | |||
rs1064793434 | 1.000 | 0.120 | 7 | 150948978 | frameshift variant | C/- | delins | 1 |