Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs886039801 | 0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv | 6 | |||
rs749974697 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 5 | ||
rs775081992 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 5 | ||
rs606231137 | 0.882 | 0.120 | 7 | 33383752 | frameshift variant | AACA/- | delins | 3 | |||
rs137852856 | 0.925 | 0.120 | 7 | 33383668 | stop gained | C/T | snv | 8.4E-06 | 2.8E-05 | 2 | |
rs137852858 | 0.925 | 0.120 | 7 | 33336487 | stop gained | C/T | snv | 2 | |||
rs201938124 | 0.925 | 0.120 | 7 | 33367863 | splice donor variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs137852857 | 0.925 | 0.120 | 7 | 33177570 | missense variant | G/A | snv | 1 | |||
rs137962929 | 1.000 | 0.120 | 7 | 33152852 | splice donor variant | G/A | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs1562686929 | 1.000 | 0.120 | 7 | 33152699 | splice acceptor variant | A/G | snv | 1 | |||
rs1562917450 | 1.000 | 0.120 | 7 | 33273036 | missense variant | G/A | snv | 1 | |||
rs1563049863 | 1.000 | 0.120 | 7 | 33352875 | splice donor variant | T/A | snv | 1 | |||
rs370916293 | 1.000 | 0.120 | 7 | 33152855 | stop lost | A/C;G | snv | 4.0E-06 | 1 | ||
rs747388658 | 1.000 | 0.120 | 7 | 33155682 | frameshift variant | TT/-;T | delins | 7.3E-05; 8.1E-06 | 1 | ||
rs762511626 | 1.000 | 0.120 | 7 | 33349108 | stop gained | T/A;C | snv | 8.0E-06 | 1 | ||
rs863224534 | 1.000 | 0.120 | 7 | 33349161 | stop gained | G/T | snv | 4.0E-06 | 1 |