SMOC1

SPARC related modular calcium binding 1

Summary

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Known Variants132 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14042731514:70,345,979T/A—benign
rs374290814:70,345,990T/A—benign
rs14609511814:70,346,350A/G—benign
rs188357829514:70,346,413C/G—uncertain significance
rs13886225514:70,346,416C/T—likely benign
rs78050001414:70,346,427C/T—uncertain significance
rs75546850814:70,346,443G/A—conflicting classifications of pathogenicity
rs74873223514:70,346,446G/A—likely benign
rs77032755514:70,346,456C/T—likely benign
rs14678831614:70,346,462C/T—uncertain significance
rs1115882014:70,347,348A/C——
rs8030991314:70,348,033G/Tdownstream gene variant—
rs1162754614:70,365,924A/Cintron variant—
rs22739214:70,411,090T/C——
rs714814514:70,417,846A/Cintron variant—
rs2836703314:70,418,798A/G—benign
rs13973762414:70,418,858C/G—likely benign
rs76750374414:70,418,870C/T—uncertain significance
rs374290914:70,418,881G/A—benign
rs75409340114:70,418,887C/A—uncertain significance
rs37358251714:70,418,890C/T—likely benign
rs14349073214:70,418,918A/T—likely benign
rs135028754014:70,418,944C/T—likely benign
rs37014876614:70,418,945G/A—uncertain significance
rs37086658914:70,418,978C/T—pathogenic
rs55096625414:70,418,979G/A—uncertain significance
rs14360648314:70,418,985C/T—conflicting classifications of pathogenicity
rs37421543514:70,418,988C/T—uncertain significance
rs135353688214:70,418,990C/G—uncertain significance
rs1015092514:70,418,999G/A—benign
rs250320725214:70,419,003A/G—uncertain significance
rs76448261614:70,419,006G/A—uncertain significance
rs14572232814:70,419,008G/C—likely benign
rs188307478714:70,420,122C/T—likely benign
rs75819393314:70,420,129T/C—likely benign
rs78121696914:70,420,145C/T—pathogenic
rs74950578914:70,420,167G/A—uncertain significance
rs14962852814:70,420,190A/C—likely benign
rs250321034714:70,420,217C/T—uncertain significance
rs14701742414:70,420,226G/A—likely benign
rs75226227214:70,420,231G/A—likely benign
rs111416745514:70,420,238T/C—pathogenic
rs19959605014:70,420,240C/T—likely benign
rs75135634114:70,420,250G/A—pathogenic
rs37739876114:70,420,256C/G—likely benign
rs74580494214:70,420,260G/A—likely benign
rs37434314514:70,420,262A/C—benign
rs1048382914:70,442,350A/G—benign
rs13802611514:70,442,455G/A—likely benign
rs14950088214:70,442,476G/A—likely benign
rs74735323714:70,442,489A/G—uncertain significance
rs52902164414:70,442,537G/A—uncertain significance
rs11196150314:70,442,548C/T—benign
rs7406066114:70,444,548A/G—benign
rs11742865114:70,444,622C/A—benign
rs76126169614:70,444,635G/C—uncertain significance
rs134429686514:70,444,638C/A—pathogenic
rs18133055314:70,444,646G/C—uncertain significance
rs159483468314:70,444,655T/C—likely benign
rs13834570514:70,451,536T/Cintron variant—
rs22742714:70,455,523G/T——
rs22742514:70,456,699T/Gintron variant—
rs75749623514:70,459,159G/A—likely benign
rs14259026714:70,459,174G/A—likely benign
rs19992847514:70,459,181G/A—uncertain significance
rs75551663614:70,459,183T/A—uncertain significance
rs22741914:70,459,370C/T—benign
rs22741714:70,460,554T/Cintron variant—
rs75673374914:70,461,103T/G—likely benign
rs77217855114:70,461,115A/G—likely pathogenic
rs13956834514:70,461,149T/C—likely benign
rs87937547214:70,461,168A/G—uncertain significance
rs86322331714:70,461,198G/A—pathogenic
rs75896748714:70,461,204A/T—likely benign
rs36761855014:70,461,206C/A—likely benign
rs716072614:70,472,812C/T——
rs159485398314:70,477,499G/A—likely benign
rs382573914:70,477,508C/T—benign
rs156670975414:70,477,515G/T—pathogenic
rs37667266514:70,477,524C/Tstop gainedpathogenic
rs75352605214:70,477,534G/A—uncertain significance
rs250331030914:70,477,615G/A—pathogenic
rs156670982514:70,477,618G/A—likely pathogenic
rs77663858614:70,477,638C/T—uncertain significance
rs250331043614:70,477,641C/T—uncertain significance
rs136581842014:70,477,663G/A—pathogenic
rs75330300114:70,477,673C/A—likely benign
rs3431140814:70,477,695C/T—benign
rs1288506814:70,477,786A/G—benign
rs11637552614:70,478,176C/T—benign
rs5760990114:70,478,183C/A—benign
rs77929012514:70,478,185T/A—likely benign
rs134792861414:70,478,188C/A—likely benign
rs188533908214:70,478,202C/T—likely benign
rs250331281514:70,478,217T/C—likely benign
rs76148436314:70,478,226C/T—likely benign
rs14000531614:70,478,229C/T—likely benign
rs7958094514:70,478,230G/T—uncertain significance
rs75867279814:70,478,249A/G—uncertain significance
rs74745661714:70,478,253G/A—likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.