Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs369841551 | 0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
rs121913562 | 1.000 | 0.080 | 18 | 60371538 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs121913563 | 1.000 | 0.080 | 18 | 60371827 | missense variant | C/T | snv | 5.4E-04 | 3.0E-04 | 1 | |
rs121913564 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs13447324 | 1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 | 1 | |
rs13447331 | 0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 1 | |
rs187152753 | 1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 | 1 | |
rs193922685 | 1.000 | 0.080 | 18 | 60371812 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs193922687 | 1.000 | 0.080 | 18 | 60371514 | frameshift variant | CA/-;CACA | delins | 1 | |||
rs370479598 | 1.000 | 0.080 | 18 | 60372169 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs376439188 | 1.000 | 0.080 | 18 | 60372189 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs52804924 | 0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs747681609 | 1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 1 | |
rs756232889 | 1.000 | 0.080 | 18 | 60371512 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs766665118 | 1.000 | 0.080 | 18 | 60371901 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 1 | |
rs770293321 | 1.000 | 0.080 | 18 | 60372286 | stop gained | GT/- | delins | 1.2E-05 | 1 | ||
rs772393451 | 1.000 | 0.080 | 18 | 60371601 | missense variant | A/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs79783591 | 1.000 | 0.080 | 18 | 60371544 | missense variant | A/T | snv | 1.0E-03 | 1.1E-04 | 1 | |
rs942758928 | 1.000 | 0.080 | 18 | 60371854 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 1 |