BMP1

bone morphogenetic protein 1

Summary

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

Known Variants804 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1219185598:22,020,971C/Amissense variantpathogenic
rs47158:22,021,037C/Amissense variantlikely benign
rs349573188:22,021,460G/Amissense variantpathogenic
rs1219178358:22,021,523T/Amissense variantpathogenic
rs1219185608:22,021,541T/Cmissense variantpathogenic
rs5554742978:22,022,581C/G—likely benign
rs11719440038:22,022,919A/G—pathogenic
rs21318302958:22,022,920T/C—pathogenic
rs7553129248:22,022,924C/G—likely benign
rs7814215698:22,022,925G/C—uncertain significance
rs25389580148:22,022,927C/T—likely benign
rs9102463708:22,022,939G/C—likely benign
rs7783734668:22,022,941C/G—uncertain significance
rs25389580648:22,022,948G/A—likely benign
rs3723326788:22,022,951C/T—likely benign
rs3182407628:22,022,952G/Cmissense variantpathogenic
rs7683369988:22,022,954G/A—likely benign
rs9281961478:22,022,966C/A—likely benign
rs13620798058:22,022,967C/T—uncertain significance
rs7626002288:22,022,969G/T—likely benign
rs13876721038:22,022,975C/G—likely benign
rs7598068368:22,022,978C/A—likely benign
rs5312951208:22,022,979C/A—likely benign
rs7577711558:22,022,996C/T—likely benign
rs21318305988:22,023,004C/A—uncertain significance
rs12087723218:22,023,014G/A—likely benign
rs1441149758:22,023,026C/T—likely benign
rs11610979448:22,023,027G/A—uncertain significance
rs18280645628:22,023,032G/A—likely benign
rs5616445318:22,023,037C/T—uncertain significance
rs7726585858:22,023,038C/T—likely benign
rs11957678438:22,023,044C/T—likely benign
rs13214440508:22,023,066G/A—uncertain significance
rs7677789958:22,023,074C/T—likely benign
rs9339432188:22,023,079C/T—likely benign
rs7642281828:22,023,080G/A—likely benign
rs25389586188:22,023,081G/A—likely benign
rs10131504868:22,023,082C/A—likely benign
rs11629669008:22,023,083C/A—likely benign
rs732258428:22,030,065C/Tdownstream gene variant—
rs1136254748:22,030,950G/A—likely benign
rs1119514368:22,030,969T/C—benign
rs13590812928:22,031,098T/G—likely benign
rs18283430228:22,031,104T/C—likely benign
rs3705428868:22,031,107C/G—likely benign
rs15864365248:22,031,117G/T—uncertain significance
rs25389720258:22,031,119C/G—likely benign
rs2020962638:22,031,123C/T—uncertain significance
rs7642715178:22,031,128G/A—likely benign
rs12575611018:22,031,140G/A—likely benign
rs7656676728:22,031,143C/T—likely benign
rs8860628188:22,031,144G/A—uncertain significance
rs12083468748:22,031,146A/G—likely benign
rs7509434678:22,031,152C/A—uncertain significance
rs7494853608:22,031,170A/G—conflicting classifications of pathogenicity
rs3745385918:22,031,173G/A—likely benign
rs14228175888:22,031,174C/T—pathogenic
rs7487609018:22,031,176G/T—uncertain significance
rs1405134028:22,031,177G/T—benign
rs21318446808:22,031,190G/C—uncertain significance
rs2013772528:22,031,192C/T—uncertain significance
rs3684357678:22,031,204C/T—uncertain significance
rs735495808:22,031,205G/A—conflicting classifications of pathogenicity
rs7767227858:22,031,210T/A—uncertain significance
rs25389722828:22,031,224T/C—likely benign
rs25389723058:22,031,229G/T—likely pathogenic
rs25389723068:22,031,230T/C—likely pathogenic
rs3699007328:22,031,235C/T—likely benign
rs7459525508:22,031,236G/A—likely benign
rs14725059138:22,031,237G/T—likely benign
rs7634218688:22,031,240G/T—likely benign
rs18283507578:22,031,241C/T—likely benign
rs2005574138:22,031,244A/G—likely benign
rs25389723408:22,031,245T/C—likely benign
rs5742137428:22,031,248G/A—likely benign
rs117779328:22,033,435C/A—benign
rs69842108:22,033,615C/G—benign
rs7811017158:22,033,639A/G—likely benign
rs25389756068:22,033,642A/G—likely benign
rs10379506668:22,033,647C/T—likely benign
rs7774934338:22,033,652T/C—likely benign
rs7732579168:22,033,668C/T—uncertain significance
rs12036467998:22,033,678C/A—likely benign
rs14083353738:22,033,687G/A—likely benign
rs14388171968:22,033,689G/A—uncertain significance
rs2018346658:22,033,696C/G—uncertain significance
rs9845491518:22,033,697G/T—uncertain significance
rs1474033158:22,033,703C/T—uncertain significance
rs11850013768:22,033,704C/G—uncertain significance
rs12374987378:22,033,724A/C—likely benign
rs10305096788:22,033,731G/A—uncertain significance
rs7650024758:22,033,736A/C—likely benign
rs7578508878:22,033,741C/T—likely benign
rs11993578348:22,033,744T/C—likely benign
rs12621088828:22,033,748C/T—uncertain significance
rs7809367838:22,033,762G/C—likely benign
rs25389760758:22,033,765C/T—likely benign
rs7479887038:22,033,766C/A—likely benign
rs3681850378:22,033,771A/G—likely benign
rs7759474358:22,033,786C/T—likely benign

Showing 100 of 804 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.