Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs118204073 | 0.925 | 0.120 | 8 | 19951825 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs757546424 | 1.000 | 0.080 | 8 | 19954236 | missense variant | A/C | snv | 1.2E-05 | 1 | ||
rs268 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 6 | |
rs118204064 | 1.000 | 0.080 | 8 | 19954126 | missense variant | A/G | snv | 1 | |||
rs886037775 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 6 | |||
rs118204081 | 1.000 | 0.080 | 8 | 19956052 | stop gained | C/A | snv | 2 | |||
rs118204074 | 1.000 | 0.080 | 8 | 19951819 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
rs118204067 | 1.000 | 0.080 | 8 | 19954271 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs118204078 | 0.925 | 0.080 | 8 | 19960935 | missense variant | C/G | snv | 1 | |||
rs371282890 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 1 | |
rs761265900 | 1.000 | 0.080 | 8 | 19956040 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs118204058 | 1.000 | 0.080 | 8 | 19951916 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs118204072 | 1.000 | 0.080 | 8 | 19954174 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs118204076 | 1.000 | 0.080 | 8 | 19954199 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
rs118204082 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 1 | ||
rs118204060 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 1 | |
rs118204077 | 1.000 | 0.080 | 8 | 19955873 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs546542623 | 1.000 | 0.080 | 8 | 19959335 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
rs1563575252 | 1.000 | 0.080 | 8 | 19954320 | frameshift variant | G/- | del | 2 | |||
rs118204056 | 1.000 | 0.080 | 8 | 19954185 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs118204062 | 1.000 | 0.080 | 8 | 19955874 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs118204063 | 1.000 | 0.080 | 8 | 19953386 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs118204066 | 1.000 | 0.080 | 8 | 19960988 | stop gained | G/A | snv | 1 | |||
rs118204068 | 0.925 | 0.120 | 8 | 19955894 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs118204070 | 1.000 | 0.080 | 8 | 19951791 | stop gained | G/A | snv | 4.0E-06 | 3.5E-05 | 1 |