Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 35 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 30 | ||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 22 | ||
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 17 | ||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 16 | |||
rs28931614 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 15 | |||
rs121913116 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 9 | |||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 9 | ||
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 | |||
rs28928868 | 0.925 | 0.120 | 4 | 1806164 | missense variant | G/C;T | snv | 4.0E-06 | 2 | ||
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 | |||
rs587778816 | 1.000 | 0.120 | 4 | 1803731 | missense variant | C/A;G | snv | 1 | |||
rs587778817 | 1.000 | 0.120 | 4 | 1803744 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||
rs77722678 | 1.000 | 0.120 | 4 | 1805643 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs80053154 | 0.925 | 0.120 | 4 | 1805636 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 |