CR2

complement C3d receptor 2

Summary

This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Known Variants665 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3813946	1:207,627,693	T/C	regulatory region variant	risk factor
rs1423906073	1:207,627,770	G/T	—	uncertain significance
rs767276361	1:207,627,772	C/T	—	likely benign
rs1478924012	1:207,627,775	G/A	—	likely benign
rs779365020	1:207,627,784	C/T	—	likely benign
rs748860952	1:207,627,795	T/C	—	uncertain significance
rs1253297153	1:207,627,802	C/G	—	likely benign
rs754824683	1:207,627,803	G/C	—	uncertain significance
rs2527184776	1:207,627,805	C/T	—	likely benign
rs892246082	1:207,627,815	G/A	—	uncertain significance
rs2527184847	1:207,627,817	C/T	—	likely benign
rs1572942436	1:207,627,833	G/C	—	likely benign
rs373721952	1:207,627,834	G/T	—	likely benign
rs770082685	1:207,627,840	C/T	—	likely benign
rs1876453	1:207,627,918	G/A	—	benign
rs311306	1:207,630,444	C/G	intron variant	—
rs17044525	1:207,632,796	A/T	—	—
rs17044576	1:207,634,670	T/C	intron variant	—
rs3767934	1:207,636,208	G/T	intron variant	—
rs3767933	1:207,637,359	T/C	intron variant	—
rs311311	1:207,639,695	C/G	—	benign
rs777500765	1:207,639,851	G/A	—	likely benign
rs1658101421	1:207,639,854	C/T	—	likely benign
rs746839121	1:207,639,858	T/C	—	likely benign
rs1439342810	1:207,639,859	T/G	—	likely benign
rs371075381	1:207,639,861	T/C	—	likely benign
rs138438493	1:207,639,863	C/T	—	likely benign
rs1572950687	1:207,639,866	T/C	—	uncertain significance
rs749326100	1:207,639,879	T/C	—	uncertain significance
rs1437268469	1:207,639,886	C/G	—	uncertain significance
rs150906379	1:207,639,892	C/T	—	uncertain significance
rs577153960	1:207,639,893	G/A	—	likely benign
rs773663604	1:207,639,908	C/T	—	likely benign
rs201201097	1:207,639,909	C/T	—	uncertain significance
rs368072577	1:207,639,910	G/A	—	uncertain significance
rs753584280	1:207,639,932	C/T	—	likely benign
rs764660492	1:207,639,937	C/T	—	uncertain significance
rs2102300576	1:207,639,939	G/C	—	uncertain significance
rs139230710	1:207,639,947	C/T	—	likely benign
rs2527205922	1:207,639,953	A/G	—	uncertain significance
rs1248514226	1:207,639,963	T/G	—	uncertain significance
rs2527205946	1:207,639,968	A/G	—	likely benign
rs780129217	1:207,639,978	C/T	—	uncertain significance
rs749471642	1:207,639,979	G/A	—	uncertain significance
rs2102300615	1:207,639,980	C/T	—	likely benign
rs1039507759	1:207,639,981	C/T	—	uncertain significance
rs1286391697	1:207,639,983	C/T	—	likely benign
rs2102300624	1:207,639,985	T/C	—	uncertain significance
rs779099901	1:207,639,994	A/C	—	uncertain significance
rs1319331048	1:207,639,996	A/C	—	uncertain significance
rs34486455	1:207,640,001	A/G	—	likely benign
rs1249658404	1:207,640,004	A/T	—	uncertain significance
rs2527206081	1:207,640,005	T/C	—	uncertain significance
rs45573035	1:207,640,012	C/G	—	benign
rs771267937	1:207,640,014	A/G	—	uncertain significance
rs1658109013	1:207,640,018	A/G	—	uncertain significance
rs776864053	1:207,640,024	T/C	—	uncertain significance
rs2527206125	1:207,640,025	G/A	—	likely benign
rs759188564	1:207,640,026	G/A	—	uncertain significance
rs1438807962	1:207,640,027	A/G	—	uncertain significance
rs1263033861	1:207,640,034	C/G	—	likely benign
rs2102300686	1:207,640,043	A/G	—	likely benign
rs1658110000	1:207,640,048	C/T	—	uncertain significance
rs1013574451	1:207,640,049	T/C	—	likely benign
rs147860820	1:207,640,054	A/G	—	uncertain significance
rs749360324	1:207,640,061	A/C	—	uncertain significance
rs1336533629	1:207,640,062	T/C	—	uncertain significance
rs371546344	1:207,640,088	T/G	—	likely benign
rs750220618	1:207,640,095	A/G	—	uncertain significance
rs755202444	1:207,640,118	T/G	—	uncertain significance
rs1279283315	1:207,640,129	C/T	—	uncertain significance
rs374754086	1:207,640,137	A/G	—	uncertain significance
rs1185549545	1:207,640,139	A/G	—	likely benign
rs367581933	1:207,640,146	G/A	—	uncertain significance
rs769241648	1:207,640,169	A/G	—	likely benign
rs201962814	1:207,640,175	C/T	—	likely benign
rs561466012	1:207,640,181	C/T	—	likely benign
rs1324136690	1:207,640,182	A/G	—	uncertain significance
rs138096192	1:207,640,187	C/T	—	benign
rs200595124	1:207,640,188	G/A	—	uncertain significance
rs2102300831	1:207,640,193	C/T	—	likely benign
rs543886209	1:207,640,201	T/C	—	conflicting classifications of pathogenicity
rs763604504	1:207,640,229	G/A	—	likely benign
rs563764676	1:207,640,231	C/T	—	uncertain significance
rs761774180	1:207,640,232	G/A	—	likely benign
rs201017642	1:207,640,236	C/T	—	pathogenic
rs750210048	1:207,640,237	G/T	—	uncertain significance
rs1658117045	1:207,640,243	C/T	—	uncertain significance
rs2102300887	1:207,640,247	C/T	—	likely benign
rs1303595004	1:207,640,250	T/G	—	uncertain significance
rs753028434	1:207,640,263	T/C	—	uncertain significance
rs1658117909	1:207,640,264	A/G	—	uncertain significance
rs532787805	1:207,640,266	G/C	—	likely benign
rs145095346	1:207,640,274	A/G	—	benign
rs1032980	1:207,640,345	G/T	—	benign
rs1257562	1:207,640,492	C/T	—	benign
rs2063143	1:207,641,840	C/T	—	benign
rs764271765	1:207,641,853	C/A	—	likely benign
rs985682133	1:207,641,860	G/A	—	likely benign
rs1422635726	1:207,641,862	G/T	—	uncertain significance

Showing 100 of 665 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.