Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913103 | 0.925 | 0.080 | 4 | 1807262 | stop gained | A/C;G;T | snv | 2 | |||
rs121913114 | 0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 | 2 | ||
rs121913115 | 1.000 | 0.120 | 4 | 1801928 | missense variant | A/G | snv | 2 | |||
rs121913480 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 2 | |||
rs1325547001 | 1.000 | 0.040 | 4 | 1806619 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs28928868 | 0.925 | 0.120 | 4 | 1806164 | missense variant | G/C;T | snv | 4.0E-06 | 2 | ||
rs397515514 | 0.925 | 0.080 | 4 | 1807261 | stop lost | G/T | snv | 2 | |||
rs75790268 | 0.925 | 0.120 | 4 | 1804377 | missense variant | G/T | snv | 2 | |||
rs774517056 | 1.000 | 0.200 | 4 | 1807128 | missense variant | C/G;T | snv | 2 | |||
rs121913111 | 1.000 | 0.080 | 4 | 1803725 | missense variant | G/A | snv | 1 | |||
rs121913112 | 1.000 | 0.280 | 4 | 1805561 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 1 | ||
rs1330260382 | 1.000 | 0.040 | 4 | 1801390 | missense variant | G/A | snv | 6.5E-06 | 1 | ||
rs1448843898 | 1.000 | 0.120 | 4 | 1805608 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1480286871 | 1.000 | 0.040 | 4 | 1799326 | missense variant | G/A | snv | 1 | |||
rs3135890 | 4 | 1804792 | non coding transcript exon variant | C/A;T | snv | 0.12 | 1 | ||||
rs373496046 | 1.000 | 0.080 | 4 | 1803761 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs533045918 | 1.000 | 0.040 | 4 | 1804968 | missense variant | C/G;T | snv | 2.6E-05 | 1 | ||
rs587776836 | 1.000 | 0.080 | 4 | 1801942 | frameshift variant | C/- | delins | 1 | |||
rs587777857 | 1.000 | 0.200 | 4 | 1805661 | missense variant | C/A;T | snv | 1 | |||
rs587778769 | 1.000 | 0.120 | 4 | 1799488 | missense variant | A/T | snv | 1 | |||
rs587778773 | 1.000 | 0.120 | 4 | 1801886 | missense variant | C/T | snv | 4.1E-06 | 1 | ||
rs587778775 | 1.000 | 0.120 | 4 | 1803785 | missense variant | G/A;T | snv | 1 | |||
rs587778776 | 1.000 | 0.120 | 4 | 1804396 | missense variant | T/A;G | snv | 1.2E-05 | 1 | ||
rs587778801 | 1.000 | 0.120 | 4 | 1801518 | synonymous variant | C/T | snv | 1 | |||
rs587778811 | 1.000 | 0.120 | 4 | 1801896 | synonymous variant | G/T | snv | 1 |