JAZF1
JAZF zinc finger 1
Summary
This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1230416015 | 7:27,872,456 | G/A | — | uncertain significance |
| rs2534821138 | 7:27,880,384 | A/G | — | uncertain significance |
| rs779432507 | 7:27,880,439 | C/T | — | uncertain significance |
| rs200368941 | 7:27,934,912 | G/T | — | uncertain significance |
| rs899904885 | 7:27,934,973 | A/G | — | uncertain significance |
| rs67152137 | 7:27,975,919 | G/C | intron variant | — |
| rs10486567 | 7:27,976,563 | G/A | intron variant | — |
| rs62451152 | 7:27,993,157 | A/C | intron variant | — |
| rs4722750 | 7:28,004,198 | C/T | intron variant | — |
| rs12671866 | 7:28,005,988 | C/G | — | — |
| rs368409103 | 7:28,031,588 | C/T | — | uncertain significance |
| rs2535057933 | 7:28,031,599 | A/T | — | uncertain significance |
| rs7785730 | 7:28,096,199 | A/G | intron variant | — |
| rs28576490 | 7:28,142,213 | T/C | — | — |
| rs6963719 | 7:28,149,043 | C/A | — | — |
| rs11761045 | 7:28,150,186 | A/C | — | — |
| rs4722758 | 7:28,156,606 | C/A | — | — |
| rs6977955 | 7:28,156,887 | C/A | — | — |
| rs9648346 | 7:28,160,113 | C/G | upstream gene variant | — |
| rs740122 | 7:28,166,442 | G/A | regulatory region variant | — |
| rs572985607 | 7:28,167,403 | C/T | — | — |
| rs849136 | 7:28,174,957 | A/G | intron variant | — |
| rs67250450 | 7:28,174,986 | T/C | intron variant | — |
| rs864745 | 7:28,180,556 | T/C | intron variant | — |
| rs860263 | 7:28,182,346 | A/G | regulatory region variant | — |
| rs849140 | 7:28,183,702 | T/C | intron variant | — |
| rs849141 | 7:28,185,091 | A/G | intron variant | — |
| rs886663 | 7:28,185,426 | C/T | intron variant | — |
| rs849142 | 7:28,185,891 | T/A | — | — |
| rs75246485 | 7:28,186,894 | A/C | intron variant | — |
| rs1708301 | 7:28,187,415 | G/T | — | — |
| rs79131915 | 7:28,188,046 | C/A | intron variant | — |
| rs1029534 | 7:28,189,083 | T/C | — | — |
| rs1635852 | 7:28,189,411 | T/C | regulatory region variant | benign |
| rs1708299 | 7:28,189,946 | A/T | — | — |
| rs12055996 | 7:28,191,793 | T/C | regulatory region variant | — |
| rs860262 | 7:28,194,397 | C/G | — | — |
| rs849134 | 7:28,196,222 | A/G | intron variant | — |
| rs849135 | 7:28,196,413 | G/A | intron variant | — |
| rs1708302 | 7:28,198,677 | C/T | intron variant | — |
| rs68183954 | 7:28,203,571 | C/T | regulatory region variant | — |
| rs150231034 | 7:28,207,784 | G/A | intron variant | — |
| rs508347 | 7:28,212,824 | T/C | intron variant | — |
| rs182533474 | 7:28,214,664 | C/A | intron variant | — |
| rs3735567 | 7:28,219,310 | G/A | regulatory region variant | — |
| rs849333 | 7:28,219,812 | A/C | — | — |
| rs186735625 | 7:28,219,956 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.