Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs45546039 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 10 | ||
rs199473097 | 0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 9 | |
rs757532106 | 0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 | 9 | |
rs137854618 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 8 | ||
rs137854601 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 6 | ||
rs11708996 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 5 | ||
rs137854600 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 4 | |||
rs137854612 | 0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv | 4 | |||
rs199473072 | 0.827 | 0.160 | 3 | 38613773 | missense variant | G/A | snv | 1.2E-05 | 8.4E-05 | 4 | |
rs199473282 | 0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs137854604 | 0.882 | 0.120 | 3 | 38551243 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 3 | |
rs137854607 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 3 | |||
rs137854611 | 0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 | 3 | ||
rs199473062 | 0.827 | 0.120 | 3 | 38622401 | stop gained | C/A;G;T | snv | 4.1E-06 | 3 | ||
rs199473153 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 3 | ||
rs199473220 | 0.882 | 0.120 | 3 | 38562422 | missense variant | C/A | snv | 4.2E-05 | 2.8E-05 | 3 | |
rs199473225 | 0.851 | 0.120 | 3 | 38560397 | missense variant | G/A;C | snv | 3 | |||
rs199473266 | 0.882 | 0.120 | 3 | 38555697 | missense variant | G/C | snv | 2.0E-05 | 3 | ||
rs199473603 | 0.882 | 0.120 | 3 | 38562467 | missense variant | G/A | snv | 1.8E-04 | 2.1E-04 | 3 | |
rs41315493 | 0.851 | 0.120 | 3 | 38550521 | missense variant | C/A;T | snv | 6.6E-03; 9.7E-05 | 3 | ||
rs72549410 | 0.851 | 0.120 | 3 | 38606058 | missense variant | C/T | snv | 3 | |||
rs727504801 | 0.925 | 0.080 | 3 | 38560397 | frameshift variant | G/- | delins | 3 | |||
rs749697698 | 0.882 | 0.120 | 3 | 38551520 | inframe deletion | AAG/- | delins | 2.0E-05 | 3 | ||
rs137854613 | 0.882 | 0.120 | 3 | 38551505 | stop gained | G/A;T | snv | 2 | |||
rs137854614 | 0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv | 2 |