SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Summary

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

Known Variants697 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11648951720:35,520,327G/C—benign
rs199008788720:35,520,453A/G—uncertain significance
rs103035293220:35,520,464C/T—uncertain significance
rs199009278320:35,520,618C/G—uncertain significance
rs88605664420:35,520,624T/G—uncertain significance
rs141491747420:35,520,687G/A—uncertain significance
rs812472820:35,520,706G/A—benign
rs88605664520:35,520,799G/A—uncertain significance
rs74712891920:35,520,830A/T—uncertain significance
rs75737249520:35,520,832T/C—uncertain significance
rs88605664620:35,520,973C/T—uncertain significance
rs11479122920:35,521,047T/C—benign
rs14358809320:35,521,095C/T—conflicting classifications of pathogenicity
rs18894171220:35,521,215G/A—likely benign
rs57053529620:35,521,231C/G—uncertain significance
rs14722002220:35,521,240A/G—conflicting classifications of pathogenicity
rs11564541420:35,521,290G/A—benign
rs126927800720:35,521,339A/T—uncertain significance
rs76715503120:35,521,340T/C—uncertain significance
rs156875634520:35,521,344G/A—likely benign
rs160110833920:35,521,348T/C—uncertain significance
rs214835211420:35,521,354A/T—uncertain significance
rs214835212020:35,521,356A/G—likely benign
rs37253330720:35,521,368G/A—likely benign
rs6220811520:35,521,375G/T—uncertain significance
rs251520911220:35,521,377T/G—likely benign
rs160110838820:35,521,383T/C—likely benign
rs15071314820:35,521,384C/T—conflicting classifications of pathogenicity
rs76021720320:35,521,385G/C—uncertain significance
rs119458883320:35,521,389G/C—likely benign
rs146829749720:35,521,391G/A—uncertain significance
rs13984180620:35,521,404G/T—likely benign
rs251520920720:35,521,407T/C—likely benign
rs105122367020:35,521,414C/T—uncertain significance
rs76159658920:35,521,418C/T—uncertain significance
rs3510292720:35,521,419G/A—benign
rs124598503220:35,521,431T/A—uncertain significance
rs251520933920:35,521,434T/C—likely benign
rs199011771320:35,521,436G/A—uncertain significance
rs76625328320:35,521,440T/C—likely benign
rs144903765920:35,521,449T/C—likely benign
rs75501917620:35,521,458A/G—likely benign
rs214835225220:35,521,459A/T—uncertain significance
rs20216571020:35,521,463C/T—uncertain significance
rs75361189620:35,521,464G/A—likely benign
rs15065875520:35,521,467A/G—likely benign
rs160110859320:35,521,477G/C—likely benign
rs129849206720:35,521,484G/A—likely benign
rs74971451420:35,521,485A/T—likely benign
rs1698636120:35,521,659C/T—benign
rs54274369620:35,522,304T/G—likely benign
rs129114220:35,525,362A/C——
rs214835546220:35,526,207G/A—likely benign
rs251521717020:35,526,208A/G—likely benign
rs214835547520:35,526,215G/A—likely benign
rs251521719020:35,526,216G/T—likely benign
rs251521719220:35,526,217C/T—likely benign
rs75957534120:35,526,218C/T—likely benign
rs88648122220:35,526,221C/T—uncertain significance
rs37464207520:35,526,228C/T—likely benign
rs75275578620:35,526,229G/A—uncertain significance
rs101678809020:35,526,231C/T—likely benign
rs125592871020:35,526,232T/C—uncertain significance
rs88605664720:35,526,236T/C—uncertain significance
rs118389355820:35,526,237G/A—likely benign
rs144811379420:35,526,246G/A—conflicting classifications of pathogenicity
rs199022521020:35,526,248C/T—uncertain significance
rs251521727120:35,526,251C/T—uncertain significance
rs199022569920:35,526,260G/T—uncertain significance
rs214835552220:35,526,266A/T—uncertain significance
rs75416479720:35,526,270T/C—likely benign
rs101284823620:35,526,276T/G—likely benign
rs77949109020:35,526,278C/T—uncertain significance
rs20085679120:35,526,279G/A—benign
rs613003720:35,526,283T/C—uncertain significance
rs251521739920:35,526,292T/C—uncertain significance
rs125271177320:35,526,297G/C—uncertain significance
rs76923403720:35,526,301A/C—uncertain significance
rs251521747320:35,526,310C/T—uncertain significance
rs251521749720:35,526,312A/G—likely benign
rs214835556320:35,526,313T/C—uncertain significance
rs144254358020:35,526,314A/C—uncertain significance
rs136866336120:35,526,319C/T—uncertain significance
rs14984663720:35,526,320G/A—pathogenic
rs251521755820:35,526,323T/A—uncertain significance
rs214835558020:35,526,326G/A—likely benign
rs12143451920:35,526,329G/Astop gainedpathogenic
rs214835558920:35,526,332C/T—uncertain significance
rs140177746120:35,526,337A/C—uncertain significance
rs77407382620:35,526,339T/G—uncertain significance
rs160111267820:35,526,342C/T—likely benign
rs199022783920:35,526,348C/T—likely benign
rs199022791320:35,526,353G/A—uncertain significance
rs51572614320:35,526,363C/Gsplice region variantuncertain significance
rs170030690820:35,526,364T/C—likely pathogenic
rs251521773120:35,526,373T/A—likely benign
rs251521774220:35,526,377G/A—likely benign
rs126009043920:35,526,379G/T—likely benign
rs234211120:35,526,577G/A—benign
rs251521871720:35,526,823T/C—likely benign

Showing 100 of 697 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.