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

rsidPosition (GRCh37)AllelesClassClinVar
rs253959141912:7,169,218T/C—likely pathogenic
rs155516132812:7,169,226G/A—uncertain significance
rs78250336712:7,169,229A/G—likely benign
rs194709442312:7,169,234G/A—likely benign
rs1231134512:7,169,362C/T—benign
rs1106449712:7,169,661T/C—benign
rs194710674012:7,169,759C/T—likely benign
rs253959290712:7,169,781G/T—uncertain significance
rs166619768512:7,169,798C/T—uncertain significance
rs37588648812:7,169,804G/T—likely benign
rs37045824512:7,169,805C/T—conflicting classifications of pathogenicity
rs159157500412:7,169,807T/C—not provided
rs253959296712:7,169,810G/T—uncertain significance
rs78187111412:7,169,813T/C—uncertain significance
rs253959297912:7,169,820A/T—uncertain significance
rs148717952012:7,169,821G/A—likely benign
rs19981027112:7,169,827C/A—likely benign
rs130062377912:7,169,828A/G—uncertain significance
rs78262205412:7,169,829T/C—uncertain significance
rs121772521312:7,169,830G/A—uncertain significance
rs136427085812:7,169,835G/A—uncertain significance
rs156561935512:7,169,849C/T—uncertain significance
rs78207916112:7,169,853A/G—uncertain significance
rs155516140712:7,169,856A/C—uncertain significance
rs91534873312:7,169,859C/G—uncertain significance
rs14372998312:7,169,861C/G—uncertain significance
rs253959315912:7,169,864G/A—uncertain significance
rs14810512012:7,169,873A/G—conflicting classifications of pathogenicity
rs213572110012:7,169,879G/C—uncertain significance
rs78194401212:7,169,897A/G—conflicting classifications of pathogenicity
rs118557096512:7,169,936A/G—uncertain significance
rs78183487812:7,169,949T/C—uncertain significance
rs78270363312:7,169,954C/T—likely benign
rs78264148312:7,169,965C/T—likely benign
rs37751262412:7,169,971G/A—likely benign
rs78261535712:7,169,973A/G—uncertain significance
rs78219681312:7,169,977C/G—uncertain significance
rs11255825312:7,169,987G/A—likely pathogenic
rs78202605612:7,169,990T/C—conflicting classifications of pathogenicity
rs78238317412:7,170,003A/G—likely benign
rs117803237112:7,170,176T/G—likely benign
rs18705076112:7,170,177T/G—benign
rs121063073412:7,170,180G/C—likely benign
rs78201875812:7,170,190T/G—likely benign
rs124185145012:7,170,204G/A—uncertain significance
rs253959405812:7,170,210C/T—uncertain significance
rs253959408912:7,170,226C/G—likely benign
rs78236905312:7,170,231G/A—uncertain significance
rs78263352712:7,170,239A/T—uncertain significance
rs78266157912:7,170,240G/A—uncertain significance
rs37182842712:7,170,245A/G—uncertain significance
rs78199520812:7,170,249A/G—uncertain significance
rs155516148212:7,170,254C/T—uncertain significance
rs37583966512:7,170,256C/A—uncertain significance
rs78186301412:7,170,263A/G—uncertain significance
rs14493947212:7,170,286A/G—likely benign
rs155516149512:7,170,289C/A—pathogenic
rs13876469712:7,170,324C/T—uncertain significance
rs78228346812:7,170,326A/G—uncertain significance
rs78239041412:7,170,327A/G—uncertain significance
rs155516150712:7,170,331A/G—likely benign
rs126571659012:7,170,335C/T—uncertain significance
rs1214672712:7,170,336G/A—likely benign
rs78222601812:7,170,342C/T—uncertain significance
rs78234854912:7,170,343G/A—likely benign
rs213572172512:7,170,350G/A—uncertain significance
rs15079759512:7,170,352T/C—likely benign
rs90804888812:7,170,360A/G—uncertain significance
rs213572174712:7,170,361T/C—likely benign
rs213572175612:7,170,365G/T—uncertain significance
rs78212527212:7,170,369C/T—uncertain significance
rs37618854212:7,170,378C/T—benign
rs20186540312:7,170,380C/T—likely benign
rs155516154312:7,170,382C/T—likely benign
rs1693307812:7,171,338T/A—benign
rs1106449812:7,171,507G/A—benign
rs78216524712:7,171,555T/C—likely benign
rs253959636412:7,171,556T/C—likely benign
rs78279258412:7,171,557T/C—likely benign
rs78186660512:7,171,560A/C—likely benign
rs78274046312:7,171,567G/A—likely benign
rs119886792012:7,171,573A/G—conflicting classifications of pathogenicity
rs78181736712:7,171,586C/T—uncertain significance
rs78245056512:7,171,594G/A—uncertain significance
rs78254253212:7,171,603C/A—uncertain significance
rs796505512:7,171,620T/C—benign
rs253959654812:7,171,630A/C—uncertain significance
rs78243062412:7,171,641C/T—likely benign
rs155516176512:7,171,647C/T—likely benign
rs155516176612:7,171,649C/T—uncertain significance
rs194714239212:7,171,655C/T—uncertain significance
rs140006856912:7,171,658C/T—uncertain significance
rs78237413112:7,171,659G/A—likely benign
rs253959666812:7,171,671C/T—likely benign
rs20016651812:7,171,676A/G—uncertain significance
rs194714285912:7,171,680C/T—likely benign
rs78179001912:7,171,686G/C—uncertain significance
rs78216594812:7,171,692C/T—likely benign
rs37530801412:7,171,693G/A—uncertain significance
rs155516178612:7,171,705G/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.