ROM1

retinal outer segment membrane protein 1

Summary

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Known Variants281 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11322203811:62,380,027C/Tregulatory region variant—
rs92209708611:62,380,212C/T—uncertain significance
rs86669197311:62,380,227G/A—uncertain significance
rs53958664911:62,380,255G/C—uncertain significance
rs88604843511:62,380,259G/T—uncertain significance
rs382501911:62,380,260G/A—likely benign
rs57217479211:62,380,272G/C—likely benign
rs57637164311:62,380,316G/A—benign
rs392380511:62,380,425G/T—benign
rs88604843711:62,380,453C/T—uncertain significance
rs102915700211:62,380,517G/T—uncertain significance
rs88604843811:62,380,636G/C—uncertain significance
rs88604843911:62,380,727C/T—uncertain significance
rs77947103911:62,380,761C/T—uncertain significance
rs74655432211:62,380,762G/T—likely benign
rs194292991811:62,380,763G/A—uncertain significance
rs194293005711:62,380,768G/T—uncertain significance
rs249621947811:62,380,769C/T—uncertain significance
rs194293064811:62,380,773T/G—uncertain significance
rs37007920411:62,380,782C/G—uncertain significance
rs14954241811:62,380,783C/T—likely benign
rs103621899311:62,380,793C/A—uncertain significance
rs76295580111:62,380,794G/A—uncertain significance
rs194293230711:62,380,796A/G—uncertain significance
rs14316669611:62,380,800G/A—conflicting classifications of pathogenicity
rs77433184811:62,380,805G/T—uncertain significance
rs249621986911:62,380,811G/A—uncertain significance
rs18633114311:62,380,816C/T—likely benign
rs75067616511:62,380,817T/G—uncertain significance
rs76676982411:62,380,823C/T—uncertain significance
rs14819650911:62,380,834G/T—conflicting classifications of pathogenicity
rs53115421411:62,380,840G/A—likely benign
rs249622005811:62,380,845C/G—uncertain significance
rs213442047711:62,380,846T/C—likely benign
rs55085137211:62,380,847G/A—uncertain significance
rs74553180311:62,380,851G/A—uncertain significance
rs76926682511:62,380,852C/T—likely benign
rs77975606711:62,380,853G/A—uncertain significance
rs74909578711:62,380,859C/T—uncertain significance
rs117849569711:62,380,861C/T—likely benign
rs74803972111:62,380,890T/G—uncertain significance
rs194293795111:62,380,898C/G—uncertain significance
rs14112673011:62,380,901G/A—uncertain significance
rs213442069511:62,380,905C/T—uncertain significance
rs76073931211:62,380,906C/T—likely benign
rs194293884811:62,380,911T/A—uncertain significance
rs249622049111:62,380,913G/A—uncertain significance
rs194293904611:62,380,914C/T—uncertain significance
rs213442075311:62,380,915T/A—likely benign
rs37374494011:62,380,918C/T—likely benign
rs19984702911:62,380,920C/T—uncertain significance
rs19975701211:62,380,931C/A—uncertain significance
rs249622065311:62,380,935T/C—uncertain significance
rs88604844011:62,380,936C/A—conflicting classifications of pathogenicity
rs76714346211:62,380,943C/T—uncertain significance
rs75002520211:62,380,946G/C—uncertain significance
rs37698437211:62,380,948T/C—likely benign
rs77962295111:62,380,952C/G—uncertain significance
rs74894052111:62,380,959C/T—uncertain significance
rs77863232511:62,380,963C/T—likely benign
rs74808059411:62,380,964G/A—uncertain significance
rs77206248711:62,380,965C/T—uncertain significance
rs88604297911:62,380,966G/A—conflicting classifications of pathogenicity
rs14622717411:62,380,976G/A—uncertain significance
rs74714002811:62,380,977G/A—uncertain significance
rs103618788911:62,380,983G/A—uncertain significance
rs92314679811:62,380,990G/C—likely benign
rs77674693111:62,380,998G/A—uncertain significance
rs213442107911:62,381,005C/G—uncertain significance
rs75975265711:62,381,006C/T—uncertain significance
rs76553582011:62,381,007G/A—uncertain significance
rs13911269411:62,381,009G/T—uncertain significance
rs54664897611:62,381,010C/A—uncertain significance
rs76475923911:62,381,013G/A—uncertain significance
rs14218113011:62,381,021G/A—uncertain significance
rs39812333411:62,381,022C/T—uncertain significance
rs74799456111:62,381,039T/G—uncertain significance
rs20159513611:62,381,042C/T—uncertain significance
rs11238411611:62,381,043G/A—uncertain significance
rs74692337711:62,381,045G/A—uncertain significance
rs78127391811:62,381,054G/A—uncertain significance
rs74608414511:62,381,056C/T—likely benign
rs145133254511:62,381,058C/T—uncertain significance
rs37060666711:62,381,059G/T—likely benign
rs100247826011:62,381,065G/A—likely benign
rs77584304911:62,381,069G/C—uncertain significance
rs159076935711:62,381,071T/C—likely benign
rs14635800311:62,381,076C/T—uncertain significance
rs13966284111:62,381,077G/A—likely benign
rs76233585211:62,381,078G/C—uncertain significance
rs194294987311:62,381,079C/T—uncertain significance
rs249622193311:62,381,081G/T—uncertain significance
rs75345255011:62,381,084G/T—uncertain significance
rs147112460911:62,381,085G/A—uncertain significance
rs15006501711:62,381,086G/C—likely benign
rs75231074911:62,381,087G/C—uncertain significance
rs144863121011:62,381,088G/A—uncertain significance
rs101230403511:62,381,089G/C—likely benign
rs14538395911:62,381,091G/C—uncertain significance
rs75715388111:62,381,092G/T—likely benign

Showing 100 of 281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.