IFNGR1

interferon gamma receptor 1

Summary

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

Known Variants311 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7600888186:137,518,621C/Tuncertain significance
rs9762959516:137,518,681C/Tuncertain significance
rs9321556716:137,518,693C/Tuncertain significance
rs8860611256:137,518,702T/Cuncertain significance
rs77507066:137,518,706T/Glikely benign
rs1219131916:137,518,718G/Auncertain significance
rs8860611266:137,518,871C/Tuncertain significance
rs5359123156:137,518,910G/Auncertain significance
rs13910746186:137,518,924A/Guncertain significance
rs18874176:137,518,951A/Tbenign
rs18874166:137,518,962T/Cbenign
rs1219131896:137,519,028C/Tnot provided
rs77691416:137,519,040C/Alikely benign
rs556650366:137,519,097A/Clikely benign
rs171815626:137,519,127T/Cbenign
rs3734932266:137,519,181T/Cuncertain significance
rs7521137786:137,519,184G/Cuncertain significance
rs13413629256:137,519,190T/Cuncertain significance
rs7679864536:137,519,204A/Glikely benign
rs13713447076:137,519,208A/Guncertain significance
rs559243996:137,519,224C/Tuncertain significance
rs7493189076:137,519,225G/Alikely benign
rs3712171006:137,519,235A/Cuncertain significance
rs18874156:137,519,238A/Gbenign
rs11705378626:137,519,240T/Clikely benign
rs7799376626:137,519,249T/Glikely benign
rs21144409486:137,519,271C/Tuncertain significance
rs7612465046:137,519,285G/Tlikely benign
rs7693618336:137,519,287C/Tuncertain significance
rs21144412396:137,519,292A/Guncertain significance
rs1464245756:137,519,296C/Auncertain significance
rs412889796:137,519,297G/Aconflicting classifications of pathogenicity
rs7611313486:137,519,301A/Tuncertain significance
rs3738652696:137,519,317C/Tuncertain significance
rs7502944186:137,519,318T/Clikely benign
rs13827905116:137,519,324T/Cuncertain significance
rs25482274636:137,519,338T/Cuncertain significance
rs7808203106:137,519,346G/Auncertain significance
rs21144418106:137,519,356A/Guncertain significance
rs11604466656:137,519,361G/Auncertain significance
rs7692739786:137,519,366G/Alikely benign
rs1219131886:137,519,370C/Tnot provided
rs10236569626:137,519,373T/Cuncertain significance
rs9037255646:137,519,378T/Clikely benign
rs12596388416:137,519,386A/Guncertain significance
rs11778526206:137,519,389T/Cuncertain significance
rs21144422386:137,519,397G/Auncertain significance
rs7611129566:137,519,400T/Auncertain significance
rs1447150186:137,519,402A/Glikely benign
rs3771663366:137,519,403A/Guncertain significance
rs17791442106:137,519,409T/Cuncertain significance
rs10066478466:137,519,410T/Guncertain significance
rs1468426696:137,519,418T/Guncertain significance
rs9979316806:137,519,421T/Cuncertain significance
rs3705800646:137,519,424C/Tuncertain significance
rs13764568066:137,519,436T/Cuncertain significance
rs12353750416:137,519,439C/Tuncertain significance
rs17791463976:137,519,441G/Alikely benign
rs3747879816:137,519,448T/Cuncertain significance
rs7810166786:137,519,450C/Tlikely benign
rs7477695386:137,519,451G/Auncertain significance
rs7749980206:137,519,462G/Alikely benign
rs15622823196:137,519,478G/Auncertain significance
rs1489890526:137,519,483G/Cuncertain significance
rs7475645876:137,519,497G/Tuncertain significance
rs21144435546:137,519,509C/Guncertain significance
rs9635644936:137,519,518T/Cuncertain significance
rs25482279126:137,519,519T/Clikely benign
rs25482279386:137,519,529T/Cuncertain significance
rs14413246646:137,519,534G/Tlikely benign
rs1497619436:137,519,537C/Tlikely benign
rs1481582676:137,519,538G/Auncertain significance
rs564035076:137,519,545C/Tuncertain significance
rs7630844426:137,519,546G/Alikely benign
rs21144440266:137,519,551G/Auncertain significance
rs21144442116:137,519,572C/Tuncertain significance
rs17791523746:137,519,579T/Clikely benign
rs1996419666:137,519,582T/Cuncertain significance
rs7674761706:137,519,584T/Cuncertain significance
rs25482280576:137,519,586C/Guncertain significance
rs119146:137,519,588A/Csynonymous variantbenign
rs7567669956:137,519,590A/Guncertain significance
rs1390835896:137,519,595T/Guncertain significance
rs14228043246:137,519,596C/Tuncertain significance
rs7454014116:137,519,600T/Clikely benign
rs1219131866:137,519,604T/Cuncertain significance
rs1219131856:137,519,611C/Tuncertain significance
rs7484784566:137,519,622T/Cuncertain significance
rs7767454856:137,519,629C/Tuncertain significance
rs1474924376:137,519,630G/Alikely benign
rs171753506:137,519,634T/Glikely benign
rs21144448856:137,519,647C/Tuncertain significance
rs3726351426:137,519,650T/Cuncertain significance
rs21144449636:137,519,656G/Auncertain significance
rs7559211896:137,519,659A/Tuncertain significance
rs3761241366:137,519,663C/Tlikely benign
rs7534957986:137,519,664G/Auncertain significance
rs1485791166:137,519,711C/Tlikely benign
rs5600142386:137,519,712G/Auncertain significance
rs13566792716:137,519,717G/Alikely benign

Showing 100 of 311 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.