DNASE1L3

deoxyribonuclease 1L3

Summary

This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Known Variants196 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7461007953:58,178,414C/Auncertain significance
rs7801963153:58,178,422G/Auncertain significance
rs24713009373:58,178,429C/Guncertain significance
rs24713009503:58,178,432T/Clikely benign
rs7748171413:58,178,456T/Auncertain significance
rs9700458783:58,178,472A/Guncertain significance
rs1511619863:58,178,478C/Tuncertain significance
rs7592381093:58,178,480T/Clikely benign
rs7641806043:58,178,517C/Guncertain significance
rs14591544193:58,178,519G/Alikely benign
rs1130052223:58,178,529G/Cuncertain significance
rs7501284753:58,178,533A/Guncertain significance
rs24713010723:58,178,536A/Tlikely benign
rs24713010763:58,178,539A/Clikely benign
rs14333693423:58,178,545G/Clikely benign
rs21073651643:58,178,548A/Glikely benign
rs13135699163:58,178,550G/Cuncertain significance
rs37326303:58,179,028T/Cbenign
rs3736335513:58,179,053C/Glikely benign
rs3774659773:58,179,056G/Alikely benign
rs5635416303:58,179,060G/Tlikely benign
rs7740026263:58,179,063A/Tlikely benign
rs20973952893:58,179,066T/Cuncertain significance
rs21073657783:58,179,071T/Cuncertain significance
rs21073657833:58,179,073C/Guncertain significance
rs1464449663:58,179,089T/Guncertain significance
rs1382487403:58,179,094T/Clikely benign
rs15754944683:58,179,103G/Tuncertain significance
rs20973953183:58,179,126G/Tuncertain significance
rs7783877583:58,179,141C/Tuncertain significance
rs764407993:58,179,142G/Cuncertain significance
rs24713019573:58,179,149T/Cuncertain significance
rs13629011333:58,179,156T/Cuncertain significance
rs13260800523:58,179,160C/Tlikely benign
rs7476989843:58,179,162C/Guncertain significance
rs1868230383:58,179,169G/Alikely benign
rs7708325743:58,179,176G/Alikely benign
rs24713020573:58,179,178G/Alikely benign
rs38567083:58,181,500A/T
rs7565264113:58,183,530C/Alikely benign
rs7477888093:58,183,538G/Tlikely benign
rs7716972743:58,183,544C/Tuncertain significance
rs15754963193:58,183,553A/Glikely benign
rs5368130393:58,183,563T/Cuncertain significance
rs12773001163:58,183,568G/Alikely benign
rs7457058863:58,183,580C/Tlikely benign
rs7695751903:58,183,581G/Auncertain significance
rs3699010983:58,183,591C/Guncertain significance
rs1810834543:58,183,598C/Tlikely benign
rs7681885693:58,183,601G/Tlikely benign
rs21073708563:58,183,606G/Alikely benign
rs5278091703:58,183,616C/Tlikely benign
rs7509608353:58,183,621G/Cuncertain significance
rs7668633813:58,183,635C/Tuncertain significance
rs356774703:58,183,636G/Amissense variantlikely benign
rs7774300613:58,183,651C/Tuncertain significance
rs13449047453:58,183,656T/Cuncertain significance
rs13661943933:58,183,661G/Alikely benign
rs7457956463:58,183,664G/Alikely benign
rs7582816173:58,183,668C/Tlikely benign
rs7752731813:58,183,672A/Cuncertain significance
rs2004572093:58,183,675C/Tuncertain significance
rs1484397073:58,183,676G/Alikely benign
rs24713063853:58,183,680T/Cpathogenic
rs15754964073:58,183,685G/Alikely benign
rs7612685393:58,183,688A/Glikely benign
rs13134604333:58,183,689C/Guncertain significance
rs21073709903:58,183,709A/Glikely benign
rs21073738053:58,186,712A/Glikely benign
rs3731265313:58,186,716G/Aconflicting classifications of pathogenicity
rs7771615733:58,186,718C/Auncertain significance
rs37729853:58,186,719A/Cuncertain significance
rs617300773:58,186,727C/Tlikely benign
rs13465558863:58,186,729C/Tuncertain significance
rs21073738703:58,186,733C/Tlikely pathogenic
rs37729863:58,186,737C/Auncertain significance
rs24713094343:58,186,745C/Tlikely benign
rs1466229513:58,186,748G/Cuncertain significance
rs1387204163:58,186,751C/Glikely benign
rs7610702973:58,186,754G/Alikely benign
rs7701370983:58,186,766C/Guncertain significance
rs24713094683:58,186,768A/Glikely benign
rs1491856683:58,186,769C/Tlikely benign
rs9192169553:58,186,774C/Guncertain significance
rs1423618203:58,186,775G/Clikely benign
rs3754252783:58,186,787G/Clikely benign
rs1472194023:58,186,804T/Guncertain significance
rs20974002623:58,186,805G/Alikely benign
rs7782046093:58,186,819T/Clikely benign
rs1468056333:58,186,822C/Tuncertain significance
rs7573661183:58,186,823G/Alikely benign
rs3708620103:58,186,826G/Alikely benign
rs2019289083:58,186,833A/Guncertain significance
rs12017123923:58,186,844A/Glikely benign
rs11761396593:58,186,849A/Glikely benign
rs24713096713:58,186,851A/Glikely benign
rs24713096753:58,186,855G/Tlikely benign
rs7529631213:58,186,856C/Tlikely benign
rs42343893:58,186,911G/Abenign
rs7703600033:58,190,480C/Glikely benign

Showing 100 of 196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.