Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519816 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 10 | |||
rs121913469 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 8 | |||
rs1057519890 | 0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv | 7 | |||
rs121913470 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 7 | |||
rs1057519738 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs1057519862 | 0.851 | 0.160 | 17 | 39723405 | missense variant | G/A | snv | 5 | |||
rs121913471 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 3 |