Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs268 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 6 | |
rs886037774 | 0.882 | 0.120 | 8 | 19955993 | missense variant | T/C | snv | 6 | |||
rs886037775 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 6 | |||
rs118204057 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 2 | ||
rs118204081 | 1.000 | 0.080 | 8 | 19956052 | stop gained | C/A | snv | 2 | |||
rs1563575252 | 1.000 | 0.080 | 8 | 19954320 | frameshift variant | G/- | del | 2 | |||
rs1161884343 | 1.000 | 0.080 | 8 | 19955930 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs1181582051 | 1.000 | 0.080 | 8 | 19956048 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs118204056 | 1.000 | 0.080 | 8 | 19954185 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs118204058 | 1.000 | 0.080 | 8 | 19951916 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs118204059 | 1.000 | 0.080 | 8 | 19955876 | missense variant | T/A | snv | 1 | |||
rs118204060 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 1 | |
rs118204061 | 1.000 | 0.080 | 8 | 19954240 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 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 | ||
rs118204064 | 1.000 | 0.080 | 8 | 19954126 | missense variant | A/G | snv | 1 | |||
rs118204065 | 1.000 | 0.080 | 8 | 19951783 | stop gained | T/A | snv | 4.0E-06 | 1 | ||
rs118204066 | 1.000 | 0.080 | 8 | 19960988 | stop gained | G/A | snv | 1 | |||
rs118204067 | 1.000 | 0.080 | 8 | 19954271 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs118204068 | 0.925 | 0.120 | 8 | 19955894 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs118204069 | 1.000 | 0.080 | 8 | 19951856 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs118204070 | 1.000 | 0.080 | 8 | 19951791 | stop gained | G/A | snv | 4.0E-06 | 3.5E-05 | 1 | |
rs118204071 | 0.925 | 0.080 | 8 | 19959322 | missense variant | G/A | snv | 1 | |||
rs118204072 | 1.000 | 0.080 | 8 | 19954174 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs118204073 | 0.925 | 0.120 | 8 | 19951825 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 1 |