Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555483699 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 10 | |||
rs869312681 | 1.000 | 16 | 9763169 | missense variant | T/C | snv | 3 | ||||
rs397518465 | 0.925 | 0.040 | 16 | 9937958 | splice donor variant | C/A;T | snv | 2 | |||
rs751455326 | 1.000 | 16 | 9768993 | missense variant | G/A;T | snv | 4.0E-06 | 2 | |||
rs1057524089 | 1.000 | 16 | 9938479 | stop gained | G/A | snv | 1 | ||||
rs1060503228 | 1.000 | 16 | 9834148 | stop gained | G/C | snv | 1 | ||||
rs1250662891 | 0.925 | 0.040 | 16 | 10180176 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs1445802934 | 1.000 | 16 | 9822363 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
rs1555482933 | 0.925 | 0.040 | 16 | 9764834 | missense variant | T/A | snv | 1 | |||
rs1555491648 | 0.925 | 0.040 | 16 | 9822337 | missense variant | G/A | snv | 1 | |||
rs1555492758 | 1.000 | 16 | 9829494 | missense variant | T/C | snv | 1 | ||||
rs1555492769 | 1.000 | 16 | 9829529 | stop gained | C/T | snv | 1 | ||||
rs1555493585 | 1.000 | 16 | 9834209 | stop gained | C/G;T | snv | 1 | ||||
rs1555496111 | 0.925 | 0.040 | 16 | 9849778 | missense variant | A/G | snv | 1 | |||
rs387906637 | 1.000 | 16 | 9938314 | stop gained | G/A | snv | 1 | ||||
rs397514557 | 1.000 | 16 | 9829485 | missense variant | G/C | snv | 1 | ||||
rs397518447 | 0.925 | 0.040 | 16 | 9829585 | missense variant | G/T | snv | 1 | |||
rs397518450 | 1.000 | 16 | 9834227 | missense variant | G/C | snv | 1 | ||||
rs397518466 | 1.000 | 16 | 10180410 | start lost | A/G | snv | 1 | ||||
rs397518467 | 1.000 | 16 | 9764715 | stop gained | G/C | snv | 1 | ||||
rs397518469 | 1.000 | 16 | 9849963 | splice acceptor variant | T/C | snv | 1 | ||||
rs397518470 | 1.000 | 16 | 9840745 | missense variant | C/A;T | snv | 1 | ||||
rs397518471 | 1.000 | 16 | 9829476 | missense variant | A/C | snv | 1 | ||||
rs397518472 | 1.000 | 16 | 9822391 | stop gained | G/A | snv | 1 | ||||
rs762659685 | 1.000 | 16 | 9822286 | missense variant | C/T | snv | 1 |