Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs377669670 | 0.925 | 0.080 | 1 | 47416547 | missense variant | G/A | snv | 3.6E-05 | 6.4E-05 | 2 | |
rs755377651 | 0.925 | 0.080 | 1 | 47416625 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs587778872 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 3 | ||
rs387907095 | 0.925 | 0.080 | 2 | 232523492 | missense variant | G/C | snv | 1 | |||
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 12 | |
rs869025222 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 9 | |||
rs869025221 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 5 | |||
rs397518483 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 4 | |||
rs1243762658 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 5 | |
rs755000701 | 0.851 | 0.160 | 4 | 182799938 | missense variant | C/T | snv | 9.2E-06 | 1.4E-05 | 5 | |
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 2 | |||
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1554110735 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 13 | |||
rs1329285216 | 0.925 | 0.080 | 10 | 93593997 | missense variant | A/T | snv | 2 | |||
rs387907252 | 0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv | 1 | |||
rs1554985722 | 0.925 | 0.200 | 11 | 31802714 | missense variant | C/G | snv | 2 | |||
rs374823079 | 1.000 | 0.080 | 11 | 119341673 | missense variant | G/A | snv | 8.5E-05 | 3.5E-05 | 1 | |
rs370866589 | 0.851 | 0.120 | 14 | 69952261 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 | 7 | ||
rs121912543 | 0.851 | 0.080 | 14 | 74259621 | missense variant | G/A;C | snv | 2 | |||
rs755799430 | 0.925 | 0.080 | 14 | 74259689 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs869025268 | 1.000 | 0.080 | 14 | 74239626 | frameshift variant | -/G | delins | 1.3E-05 | 1 | ||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs587777690 | 0.925 | 0.080 | 17 | 32940889 | missense variant | G/C;T | snv | 4.0E-06 | 1 | ||
rs869312733 | 0.925 | 0.080 | 17 | 32940899 | missense variant | A/C | snv | 1 |