Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111033258 | 0.851 | 0.200 | 3 | 150972565 | missense variant | A/C | snv | 2.7E-04 | 1.5E-04 | 7 | |
rs121908143 | 0.827 | 0.200 | 3 | 150972591 | missense variant | A/C;G | snv | 8.0E-05; 4.0E-06 | 6 | ||
rs111033267 | 0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 | 5 | ||
rs775098953 | 0.925 | 0.200 | 3 | 150928174 | missense variant | A/C | snv | 4.0E-06 | 2 | ||
rs1085307049 | 1.000 | 0.200 | 3 | 150928174 | inframe deletion | ATA/- | delins | 1 | |||
rs121908140 | 1.000 | 0.200 | 3 | 150928107 | stop gained | A/C;G;T | snv | 6.8E-04; 4.0E-06 | 1 | ||
rs121908141 | 1.000 | 0.200 | 3 | 150941656 | missense variant | A/G;T | snv | 8.0E-06; 2.8E-05 | 1 | ||
rs121908142 | 1.000 | 0.200 | 3 | 150928186 | missense variant | A/G | snv | 1 | |||
rs1553776135 | 1.000 | 0.200 | 3 | 150972707 | start lost | A/G | snv | 1 | |||
rs376155416 | 1.000 | 0.200 | 3 | 150928094 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
rs1057516687 | 1.000 | 0.200 | 3 | 150941579 | splice donor variant | -/A | delins | 4.0E-06 | 1 | ||
rs1057517224 | 1.000 | 0.200 | 3 | 150972696 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
rs1553772595 | 1.000 | 0.200 | 3 | 150941643 | frameshift variant | A/- | delins | 1 | |||
rs1553776036 | 1.000 | 0.200 | 3 | 150972499 | frameshift variant | CCTCTCCGTGGAAAAGCCCGTAC/- | delins | 1 | |||
rs1553776052 | 1.000 | 0.200 | 3 | 150972525 | stop gained | G/A | snv | 1 | |||
rs1553776061 | 1.000 | 0.200 | 3 | 150972555 | frameshift variant | GCCC/- | del | 1 | |||
rs1553776112 | 1.000 | 0.200 | 3 | 150972669 | stop gained | C/A;T | snv | 1 | |||
rs1553776132 | 1.000 | 0.200 | 3 | 150972706 | start lost | C/T | snv | 1 | |||
rs1559982739 | 1.000 | 0.200 | 3 | 150941692 | missense variant | A/G | snv | 1 | |||
rs373208120 | 1.000 | 0.200 | 3 | 150928016 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 1 | |
rs374963432 | 1.000 | 0.200 | 3 | 150941647 | stop gained | G/T | snv | 1.6E-05 | 1.7E-04 | 1 | |
rs397517932 | 1.000 | 0.200 | 3 | 150941710 | frameshift variant | GACAT/- | delins | 8.0E-06 | 1 | ||
rs746523071 | 1.000 | 0.200 | 3 | 150928132 | frameshift variant | -/T | delins | 1.2E-05; 4.0E-06 | 7.0E-06 | 1 | |
rs786204428 | 1.000 | 0.200 | 3 | 150972557 | frameshift variant | CCTG/ATTGGACA | delins | 1 |