CFHR2
complement factor H related 2
Summary
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183266075 | 1:196,910,898 | G/T | — | — |
| rs12740821 | 1:196,911,684 | T/C | upstream gene variant | — |
| rs200227895 | 1:196,912,946 | C/G | — | benign |
| rs1476183056 | 1:196,913,041 | T/C | — | uncertain significance |
| rs140103005 | 1:196,913,197 | C/G | — | benign |
| rs148507148 | 1:196,917,443 | G/A | intron variant | — |
| rs573298413 | 1:196,917,602 | C/T | — | — |
| rs12066959 | 1:196,917,899 | G/A | intron variant | — |
| rs116224050 | 1:196,918,145 | A/G | intron variant | — |
| rs183954936 | 1:196,918,573 | T/C | — | likely benign |
| rs752602456 | 1:196,918,592 | C/G | — | uncertain significance |
| rs148175483 | 1:196,918,605 | A/G | — | conflicting classifications of pathogenicity |
| rs143480813 | 1:196,918,640 | A/G | — | likely benign |
| rs748497759 | 1:196,918,721 | C/A | — | likely benign |
| rs144596551 | 1:196,918,732 | G/T | — | likely benign |
| rs2526785236 | 1:196,918,734 | A/G | — | uncertain significance |
| rs144096230 | 1:196,918,738 | C/T | — | likely benign |
| rs61746417 | 1:196,918,739 | G/A | — | benign |
| rs79351096 | 1:196,918,741 | A/G | — | likely benign |
| rs372833461 | 1:196,918,743 | G/A | — | conflicting classifications of pathogenicity |
| rs112814481 | 1:196,918,792 | C/T | — | likely benign |
| rs370956552 | 1:196,919,976 | C/G | — | likely benign |
| rs145405649 | 1:196,920,053 | A/G | — | likely benign |
| rs555718330 | 1:196,920,056 | G/A | — | uncertain significance |
| rs763698084 | 1:196,920,072 | A/T | — | uncertain significance |
| rs2526794340 | 1:196,920,094 | C/G | — | uncertain significance |
| rs776501686 | 1:196,920,120 | A/G | — | uncertain significance |
| rs75362023 | 1:196,920,123 | G/A | — | likely benign |
| rs4085749 | 1:196,920,148 | C/T | — | benign |
| rs111370744 | 1:196,920,159 | G/A | — | uncertain significance |
| rs115541863 | 1:196,920,165 | G/A | — | likely benign |
| rs3828032 | 1:196,920,178 | C/T | — | benign |
| rs3790414 | 1:196,920,299 | T/A | — | benign |
| rs150648825 | 1:196,924,832 | G/T | intron variant | — |
| rs530715130 | 1:196,925,897 | G/A | — | — |
| rs77786256 | 1:196,926,799 | C/T | — | benign |
| rs3748556 | 1:196,926,956 | C/T | — | benign |
| rs3748555 | 1:196,926,973 | C/A | — | benign |
| rs2526831809 | 1:196,927,036 | G/T | — | uncertain significance |
| rs199784295 | 1:196,927,086 | T/C | — | likely benign |
| rs1228764174 | 1:196,927,147 | G/A | — | uncertain significance |
| rs41257904 | 1:196,927,185 | G/T | — | likely benign |
| rs1362108171 | 1:196,927,186 | A/T | — | uncertain significance |
| rs1359594 | 1:196,927,428 | T/G | — | benign |
| rs9427652 | 1:196,927,771 | T/A | — | benign |
| rs12727781 | 1:196,927,788 | A/G | — | benign |
| rs2026547 | 1:196,927,791 | G/A | — | benign |
| rs2526840195 | 1:196,928,024 | A/G | — | uncertain significance |
| rs41313888 | 1:196,928,157 | C/T | — | likely benign |
| rs370528458 | 1:196,928,158 | G/A | — | conflicting classifications of pathogenicity |
| rs893907992 | 1:196,928,184 | G/A | — | likely benign |
| rs41310132 | 1:196,928,188 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.