Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121964962 | 0.827 | 0.200 | 21 | 43062988 | missense variant | C/T | snv | 1.6E-04 | 4 | ||
rs121964964 | 0.851 | 0.160 | 21 | 43066353 | missense variant | G/A;C | snv | 2.1E-04 | 4 | ||
rs121964973 | 0.851 | 0.160 | 21 | 43065481 | missense variant | G/A;T | snv | 6.0E-05 | 4 | ||
rs28934891 | 0.851 | 0.160 | 21 | 43058862 | missense variant | C/T | snv | 3.3E-04 | 4 | ||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 4 | |||
rs121964972 | 0.851 | 0.160 | 21 | 43060528 | missense variant | G/A | snv | 2.9E-05 | 3 | ||
rs1361324844 | 0.882 | 0.160 | 21 | 43059228 | frameshift variant | G/- | delins | 4.0E-06 | 3 | ||
rs771298943 | 0.882 | 0.160 | 21 | 43062311 | missense variant | C/A;T | snv | 3 | |||
rs778220779 | 0.882 | 0.160 | 21 | 43066369 | missense variant | A/G | snv | 1.6E-05 | 2.0E-05 | 3 | |
rs1347651454 | 0.882 | 0.160 | 21 | 43065653 | missense variant | C/T | snv | 5.4E-06 | 2 | ||
rs148865119 | 0.925 | 0.160 | 21 | 43072048 | missense variant | G/A;C | snv | 1.5E-04; 4.0E-06 | 2 | ||
rs372010465 | 0.925 | 0.160 | 21 | 43060475 | missense variant | C/G;T | snv | 8.1E-06 | 2 | ||
rs398123151 | 0.882 | 0.160 | 21 | 43062344 | missense variant | G/A | snv | 2.0E-05 | 2 | ||
rs757428597 | 0.925 | 0.160 | 21 | 43063992 | splice acceptor variant | C/A;G | snv | 8.3E-06 | 2 | ||
rs760417941 | 0.925 | 0.160 | 21 | 43062343 | missense variant | C/A;T | snv | 1.2E-05 | 2 | ||
rs763290176 | 0.925 | 0.160 | 21 | 43063899 | splice donor variant | C/T | snv | 8.1E-06 | 2 | ||
rs766453711 | 0.925 | 0.160 | 21 | 43063990 | splice acceptor variant | C/- | delins | 4.1E-06 | 2 | ||
rs775351239 | 0.925 | 0.160 | 21 | 43065250 | frameshift variant | A/- | del | 4.0E-06 | 1.7E-05 | 2 | |
rs781444670 | 0.925 | 0.160 | 21 | 43066320 | missense variant | C/T | snv | 8.0E-06 | 2 | ||
rs786204757 | 0.925 | 0.160 | 21 | 43068523 | missense variant | A/G | snv | 2 | |||
rs794727835 | 0.925 | 0.160 | 21 | 43065500 | inframe deletion | GTGCCCGCAGCACGTCCA/- | delins | 1.2E-05 | 2 | ||
rs1568932835 | 1.000 | 21 | 43065523 | splice acceptor variant | T/C | snv | 1 | ||||
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs779270933 | 0.925 | 0.160 | 21 | 43063003 | missense variant | C/T | snv | 4.0E-06 | 1 |