C1S

complement C1s

Summary

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]

Known Variants417 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2539591419	12:7,169,218	T/C	—	likely pathogenic
rs1555161328	12:7,169,226	G/A	—	uncertain significance
rs782503367	12:7,169,229	A/G	—	likely benign
rs1947094423	12:7,169,234	G/A	—	likely benign
rs12311345	12:7,169,362	C/T	—	benign
rs11064497	12:7,169,661	T/C	—	benign
rs1947106740	12:7,169,759	C/T	—	likely benign
rs2539592907	12:7,169,781	G/T	—	uncertain significance
rs1666197685	12:7,169,798	C/T	—	uncertain significance
rs375886488	12:7,169,804	G/T	—	likely benign
rs370458245	12:7,169,805	C/T	—	conflicting classifications of pathogenicity
rs1591575004	12:7,169,807	T/C	—	not provided
rs2539592967	12:7,169,810	G/T	—	uncertain significance
rs781871114	12:7,169,813	T/C	—	uncertain significance
rs2539592979	12:7,169,820	A/T	—	uncertain significance
rs1487179520	12:7,169,821	G/A	—	likely benign
rs199810271	12:7,169,827	C/A	—	likely benign
rs1300623779	12:7,169,828	A/G	—	uncertain significance
rs782622054	12:7,169,829	T/C	—	uncertain significance
rs1217725213	12:7,169,830	G/A	—	uncertain significance
rs1364270858	12:7,169,835	G/A	—	uncertain significance
rs1565619355	12:7,169,849	C/T	—	uncertain significance
rs782079161	12:7,169,853	A/G	—	uncertain significance
rs1555161407	12:7,169,856	A/C	—	uncertain significance
rs915348733	12:7,169,859	C/G	—	uncertain significance
rs143729983	12:7,169,861	C/G	—	uncertain significance
rs2539593159	12:7,169,864	G/A	—	uncertain significance
rs148105120	12:7,169,873	A/G	—	conflicting classifications of pathogenicity
rs2135721100	12:7,169,879	G/C	—	uncertain significance
rs781944012	12:7,169,897	A/G	—	conflicting classifications of pathogenicity
rs1185570965	12:7,169,936	A/G	—	uncertain significance
rs781834878	12:7,169,949	T/C	—	uncertain significance
rs782703633	12:7,169,954	C/T	—	likely benign
rs782641483	12:7,169,965	C/T	—	likely benign
rs377512624	12:7,169,971	G/A	—	likely benign
rs782615357	12:7,169,973	A/G	—	uncertain significance
rs782196813	12:7,169,977	C/G	—	uncertain significance
rs112558253	12:7,169,987	G/A	—	likely pathogenic
rs782026056	12:7,169,990	T/C	—	conflicting classifications of pathogenicity
rs782383174	12:7,170,003	A/G	—	likely benign
rs1178032371	12:7,170,176	T/G	—	likely benign
rs187050761	12:7,170,177	T/G	—	benign
rs1210630734	12:7,170,180	G/C	—	likely benign
rs782018758	12:7,170,190	T/G	—	likely benign
rs1241851450	12:7,170,204	G/A	—	uncertain significance
rs2539594058	12:7,170,210	C/T	—	uncertain significance
rs2539594089	12:7,170,226	C/G	—	likely benign
rs782369053	12:7,170,231	G/A	—	uncertain significance
rs782633527	12:7,170,239	A/T	—	uncertain significance
rs782661579	12:7,170,240	G/A	—	uncertain significance
rs371828427	12:7,170,245	A/G	—	uncertain significance
rs781995208	12:7,170,249	A/G	—	uncertain significance
rs1555161482	12:7,170,254	C/T	—	uncertain significance
rs375839665	12:7,170,256	C/A	—	uncertain significance
rs781863014	12:7,170,263	A/G	—	uncertain significance
rs144939472	12:7,170,286	A/G	—	likely benign
rs1555161495	12:7,170,289	C/A	—	pathogenic
rs138764697	12:7,170,324	C/T	—	uncertain significance
rs782283468	12:7,170,326	A/G	—	uncertain significance
rs782390414	12:7,170,327	A/G	—	uncertain significance
rs1555161507	12:7,170,331	A/G	—	likely benign
rs1265716590	12:7,170,335	C/T	—	uncertain significance
rs12146727	12:7,170,336	G/A	—	likely benign
rs782226018	12:7,170,342	C/T	—	uncertain significance
rs782348549	12:7,170,343	G/A	—	likely benign
rs2135721725	12:7,170,350	G/A	—	uncertain significance
rs150797595	12:7,170,352	T/C	—	likely benign
rs908048888	12:7,170,360	A/G	—	uncertain significance
rs2135721747	12:7,170,361	T/C	—	likely benign
rs2135721756	12:7,170,365	G/T	—	uncertain significance
rs782125272	12:7,170,369	C/T	—	uncertain significance
rs376188542	12:7,170,378	C/T	—	benign
rs201865403	12:7,170,380	C/T	—	likely benign
rs1555161543	12:7,170,382	C/T	—	likely benign
rs16933078	12:7,171,338	T/A	—	benign
rs11064498	12:7,171,507	G/A	—	benign
rs782165247	12:7,171,555	T/C	—	likely benign
rs2539596364	12:7,171,556	T/C	—	likely benign
rs782792584	12:7,171,557	T/C	—	likely benign
rs781866605	12:7,171,560	A/C	—	likely benign
rs782740463	12:7,171,567	G/A	—	likely benign
rs1198867920	12:7,171,573	A/G	—	conflicting classifications of pathogenicity
rs781817367	12:7,171,586	C/T	—	uncertain significance
rs782450565	12:7,171,594	G/A	—	uncertain significance
rs782542532	12:7,171,603	C/A	—	uncertain significance
rs7965055	12:7,171,620	T/C	—	benign
rs2539596548	12:7,171,630	A/C	—	uncertain significance
rs782430624	12:7,171,641	C/T	—	likely benign
rs1555161765	12:7,171,647	C/T	—	likely benign
rs1555161766	12:7,171,649	C/T	—	uncertain significance
rs1947142392	12:7,171,655	C/T	—	uncertain significance
rs1400068569	12:7,171,658	C/T	—	uncertain significance
rs782374131	12:7,171,659	G/A	—	likely benign
rs2539596668	12:7,171,671	C/T	—	likely benign
rs200166518	12:7,171,676	A/G	—	uncertain significance
rs1947142859	12:7,171,680	C/T	—	likely benign
rs781790019	12:7,171,686	G/C	—	uncertain significance
rs782165948	12:7,171,692	C/T	—	likely benign
rs375308014	12:7,171,693	G/A	—	uncertain significance
rs1555161786	12:7,171,705	G/T	—	likely benign

Showing 100 of 417 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.