GRHPR
glyoxylate and hydroxypyruvate reductase
Summary
This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
Known Variants381 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13299681 | 9:37,422,520 | C/T | — | benign |
| rs10973330 | 9:37,422,522 | A/C | — | benign |
| rs10973331 | 9:37,422,524 | A/C | — | benign |
| rs4878690 | 9:37,422,656 | C/T | — | benign |
| rs10973332 | 9:37,422,675 | C/A | — | benign |
| rs201826196 | 9:37,422,744 | G/A | — | likely benign |
| rs200847843 | 9:37,422,745 | C/T | — | likely benign |
| rs1554746094 | 9:37,422,748 | A/G | — | pathogenic |
| rs1554746097 | 9:37,422,749 | T/G | — | likely pathogenic |
| rs772023163 | 9:37,422,753 | A/G | — | likely benign |
| rs1383422680 | 9:37,422,756 | G/C | — | likely benign |
| rs1822892003 | 9:37,422,759 | G/A | — | likely benign |
| rs979727637 | 9:37,422,760 | C/T | — | pathogenic |
| rs760538945 | 9:37,422,761 | G/A | — | uncertain significance |
| rs147185003 | 9:37,422,763 | C/T | — | likely benign |
| rs1444931153 | 9:37,422,774 | G/A | — | likely benign |
| rs2489228000 | 9:37,422,780 | C/T | — | likely benign |
| rs761847384 | 9:37,422,781 | A/G | — | uncertain significance |
| rs765256070 | 9:37,422,783 | C/T | — | likely benign |
| rs2489228036 | 9:37,422,786 | C/T | — | likely benign |
| rs1822894446 | 9:37,422,790 | A/C | — | uncertain significance |
| rs180177311 | 9:37,422,792 | — | — | pathogenic |
| rs1822895154 | 9:37,422,795 | C/G | — | likely benign |
| rs138843824 | 9:37,422,798 | C/T | — | likely benign |
| rs1334548320 | 9:37,422,804 | T/C | — | likely benign |
| rs1280854629 | 9:37,422,810 | C/T | — | likely benign |
| rs2118849193 | 9:37,422,813 | G/T | — | likely benign |
| rs2118849212 | 9:37,422,815 | T/C | — | pathogenic |
| rs1348088134 | 9:37,422,816 | C/T | — | likely benign |
| rs1326048983 | 9:37,422,822 | G/A | — | likely benign |
| rs2118849405 | 9:37,422,828 | A/C | — | likely benign |
| rs1822898131 | 9:37,422,831 | G/C | — | pathogenic |
| rs756849222 | 9:37,422,841 | C/T | — | likely benign |
| rs1588747283 | 9:37,422,845 | C/T | — | likely benign |
| rs374553871 | 9:37,422,848 | C/A | — | likely benign |
| rs1554746162 | 9:37,422,881 | G/A | — | likely benign |
| rs180177320 | 9:37,424,834 | — | — | pathogenic |
| rs756622294 | 9:37,424,837 | C/T | — | likely benign |
| rs778578725 | 9:37,424,838 | G/A | — | likely benign |
| rs180177319 | 9:37,424,840 | A/G | — | pathogenic |
| rs749935481 | 9:37,424,843 | T/C | — | uncertain significance |
| rs758049256 | 9:37,424,844 | G/A | — | uncertain significance |
| rs141330907 | 9:37,424,851 | G/A | — | likely benign |
| rs2489231853 | 9:37,424,855 | C/T | — | pathogenic |
| rs2118858592 | 9:37,424,857 | G/A | — | likely benign |
| rs2489231890 | 9:37,424,859 | G/A | — | likely pathogenic |
| rs180177304 | 9:37,424,860 | G/A | stop gained | pathogenic |
| rs768530117 | 9:37,424,865 | C/A | — | pathogenic |
| rs377072887 | 9:37,424,866 | G/A | — | likely benign |
| rs572388564 | 9:37,424,872 | G/A | — | likely benign |
| rs1386599313 | 9:37,424,875 | C/T | — | likely benign |
| rs769706192 | 9:37,424,877 | T/C | — | uncertain significance |
| rs2118858805 | 9:37,424,878 | C/T | — | likely benign |
| rs763059780 | 9:37,424,880 | C/T | — | uncertain significance |
| rs1384206562 | 9:37,424,883 | C/T | — | uncertain significance |
| rs1823004469 | 9:37,424,887 | G/A | — | likely benign |
| rs202022170 | 9:37,424,894 | G/T | — | likely pathogenic |
| rs774654020 | 9:37,424,897 | C/T | — | pathogenic |
| rs2118859014 | 9:37,424,899 | A/C | — | likely benign |
| rs753053100 | 9:37,424,906 | G/A | — | uncertain significance |
| rs150805048 | 9:37,424,907 | C/T | — | uncertain significance |
| rs369721488 | 9:37,424,908 | G/A | — | likely benign |
| rs754532633 | 9:37,424,914 | C/G | — | uncertain significance |
| rs781026957 | 9:37,424,917 | C/T | — | likely benign |
| rs756085471 | 9:37,424,918 | G/A | — | uncertain significance |
| rs777666462 | 9:37,424,920 | C/G | — | likely benign |
| rs1455078314 | 9:37,424,928 | G/A | — | likely pathogenic |
| rs1054822670 | 9:37,424,935 | C/G | — | likely benign |
| rs139689525 | 9:37,424,938 | C/T | — | likely benign |
| rs371660673 | 9:37,424,939 | G/A | — | conflicting classifications of pathogenicity |
| rs2118859424 | 9:37,424,941 | C/T | — | likely benign |
| rs1381244280 | 9:37,424,944 | C/T | — | likely benign |
| rs772410247 | 9:37,424,945 | G/A | — | uncertain significance |
| rs2489232420 | 9:37,424,951 | A/T | — | pathogenic |
| rs180177305 | 9:37,424,961 | T/C | missense variant | pathogenic |
| rs1274898001 | 9:37,424,962 | G/A | — | likely benign |
| rs1324288158 | 9:37,424,965 | T/C | — | likely benign |
| rs2489232500 | 9:37,424,969 | G/A | — | uncertain significance |
| rs1244822375 | 9:37,424,973 | G/T | — | likely pathogenic |
| rs1057517398 | 9:37,424,974 | T/G | — | pathogenic |
| rs2489232547 | 9:37,424,979 | A/C | — | likely benign |
| rs764744604 | 9:37,424,980 | C/T | — | likely benign |
| rs777214782 | 9:37,424,981 | T/G | — | likely benign |
| rs1420474786 | 9:37,424,982 | G/A | — | likely benign |
| rs1823013708 | 9:37,424,988 | G/A | — | likely benign |
| rs1470474612 | 9:37,424,992 | G/A | — | likely benign |
| rs2235096 | 9:37,425,242 | G/C | — | benign |
| rs990176591 | 9:37,425,899 | A/T | — | likely benign |
| rs765673101 | 9:37,425,901 | G/A | — | likely benign |
| rs1250528718 | 9:37,425,902 | C/T | — | likely benign |
| rs1823054468 | 9:37,425,903 | A/G | — | likely benign |
| rs369358379 | 9:37,425,905 | T/C | — | likely benign |
| rs2489234263 | 9:37,425,906 | T/C | — | likely benign |
| rs796052076 | 9:37,425,908 | C/T | — | uncertain significance |
| rs2489234293 | 9:37,425,912 | A/G | — | likely benign |
| rs2489234304 | 9:37,425,914 | A/C | — | likely benign |
| rs1823055564 | 9:37,425,920 | G/A | — | likely benign |
| rs2489234361 | 9:37,425,932 | A/G | — | likely benign |
| rs2489234374 | 9:37,425,935 | C/T | — | likely benign |
| rs143337459 | 9:37,425,938 | C/T | — | likely benign |
Showing 100 of 381 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.