Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434629 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 12 | ||
rs137853294 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 6 | ||
rs587776783 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 5 | |||
rs1555515731 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 4 | |||
rs786201675 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 4 |