CSF3R

colony stimulating factor 3 receptor

Summary

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]

Known Variants541 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3918003	1:36,931,373	C/T	—	benign
rs777880216	1:36,931,785	C/A	—	uncertain significance
rs772443391	1:36,931,797	C/T	—	uncertain significance
rs150501885	1:36,931,973	C/T	—	benign
rs372972496	1:36,931,974	G/A	—	uncertain significance
rs149680734	1:36,931,985	A/G	—	likely benign
rs1272584212	1:36,931,986	T/C	—	uncertain significance
rs1332794856	1:36,931,992	C/T	—	uncertain significance
rs770842748	1:36,931,993	G/A	—	uncertain significance
rs1475784728	1:36,932,014	A/G	—	uncertain significance
rs1650313816	1:36,932,015	G/A	—	likely benign
rs374780980	1:36,932,018	G/A	—	likely benign
rs759195810	1:36,932,019	A/G	—	uncertain significance
rs2521720067	1:36,932,028	C/T	—	uncertain significance
rs528303671	1:36,932,035	C/T	—	uncertain significance
rs952518863	1:36,932,040	T/C	—	uncertain significance
rs567871402	1:36,932,041	C/T	—	uncertain significance
rs369185814	1:36,932,042	G/A	—	likely benign
rs2521720367	1:36,932,046	T/C	—	uncertain significance
rs146617729	1:36,932,047	C/T	missense variant	likely benign
rs960503303	1:36,932,049	T/C	—	uncertain significance
rs927190839	1:36,932,052	C/G	—	uncertain significance
rs35622214	1:36,932,062	G/A	—	likely benign
rs371426547	1:36,932,064	G/A	—	uncertain significance
rs2124095601	1:36,932,066	T/C	—	likely benign
rs1557585422	1:36,932,080	A/G	—	likely benign
rs1183274433	1:36,932,088	G/A	—	uncertain significance
rs946096806	1:36,932,102	G/A	—	conflicting classifications of pathogenicity
rs150281231	1:36,932,109	T/C	—	uncertain significance
rs2521721179	1:36,932,111	G/A	—	likely benign
rs1341992681	1:36,932,120	G/A	—	likely benign
rs116118817	1:36,932,135	C/T	—	conflicting classifications of pathogenicity
rs759549054	1:36,932,136	G/T	—	uncertain significance
rs138866886	1:36,932,144	G/A	—	likely benign
rs2124096002	1:36,932,149	G/A	—	uncertain significance
rs1650326040	1:36,932,154	G/C	—	uncertain significance
rs1238212758	1:36,932,160	C/T	—	uncertain significance
rs765499767	1:36,932,163	C/A	—	uncertain significance
rs201556754	1:36,932,164	G/A	—	uncertain significance
rs2124096083	1:36,932,176	C/T	—	uncertain significance
rs1481867581	1:36,932,180	C/T	—	likely benign
rs1650328751	1:36,932,189	T/C	—	likely benign
rs1436771935	1:36,932,190	G/T	—	uncertain significance
rs889373428	1:36,932,199	C/G	—	uncertain significance
rs1650330817	1:36,932,209	G/A	—	pathogenic
rs1375728977	1:36,932,212	C/T	—	uncertain significance
rs1650331500	1:36,932,218	G/A	—	uncertain significance
rs1650332196	1:36,932,224	G/A	—	conflicting classifications of pathogenicity
rs147017250	1:36,932,227	C/T	—	uncertain significance
rs372773604	1:36,932,228	G/A	—	likely benign
rs1382959301	1:36,932,232	G/A	—	uncertain significance
rs748975530	1:36,932,234	G/C	—	likely benign
rs1296151274	1:36,932,238	G/A	—	uncertain significance
rs2521722884	1:36,932,242	G/A	—	uncertain significance
rs756684252	1:36,932,246	T/C	—	likely benign
rs1650335100	1:36,932,248	G/A	—	conflicting classifications of pathogenicity
rs1650335810	1:36,932,254	G/A	—	conflicting classifications of pathogenicity
rs2521723059	1:36,932,256	G/T	—	uncertain significance
rs376211630	1:36,932,258	G/A	—	likely benign
rs78861150	1:36,932,272	G/T	—	benign
rs746747614	1:36,932,275	C/T	—	uncertain significance
rs1553151543	1:36,932,277	C/T	—	uncertain significance
rs763256285	1:36,932,282	G/A	—	likely benign
rs766343562	1:36,932,302	G/C	—	uncertain significance
rs1650340047	1:36,932,304	G/A	—	uncertain significance
rs2124096799	1:36,932,305	T/C	—	uncertain significance
rs538096821	1:36,932,306	G/C	—	likely benign
rs1167125498	1:36,932,309	G/A	—	likely benign
rs768198697	1:36,932,312	G/A	—	likely benign
rs1292043341	1:36,932,316	C/A	—	uncertain significance
rs1650343681	1:36,932,335	G/A	—	pathogenic
rs778281149	1:36,932,337	G/A	—	uncertain significance
rs370491074	1:36,932,339	C/G	—	uncertain significance
rs1239590784	1:36,932,341	C/T	—	uncertain significance
rs757917276	1:36,932,342	C/T	—	likely pathogenic
rs779899857	1:36,932,346	G/A	—	uncertain significance
rs764603715	1:36,932,348	C/T	—	likely benign
rs776938018	1:36,932,351	C/T	—	likely benign
rs776535279	1:36,932,352	G/A	—	uncertain significance
rs373095416	1:36,932,354	C/T	—	likely benign
rs771254098	1:36,932,357	C/A	—	uncertain significance
rs1650346965	1:36,932,363	A/G	—	likely benign
rs2521724614	1:36,932,375	C/G	—	likely benign
rs1454505554	1:36,932,383	G/A	—	uncertain significance
rs376317083	1:36,932,395	G/A	—	uncertain significance
rs183614500	1:36,932,397	G/A	—	uncertain significance
rs761286829	1:36,932,399	C/T	—	likely benign
rs764345289	1:36,932,400	G/A	—	uncertain significance
rs1252144543	1:36,932,409	C/T	—	uncertain significance
rs201699446	1:36,932,410	C/T	—	uncertain significance
rs3918021	1:36,932,458	G/A	—	conflicting classifications of pathogenicity
rs148916169	1:36,932,463	G/A	—	likely benign
rs146209034	1:36,932,474	C/T	—	likely benign
rs3918001	1:36,932,503	C/T	missense variant	benign
rs370189850	1:36,932,517	G/A	—	likely benign
rs766074982	1:36,932,816	C/T	—	likely benign
rs1194540149	1:36,932,818	C/T	—	likely benign
rs2521729502	1:36,932,827	T/C	—	uncertain significance
rs756056579	1:36,932,833	C/T	—	uncertain significance
rs1397528121	1:36,932,834	C/T	—	likely benign

Showing 100 of 541 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.