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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113222038	11:62,380,027	C/T	regulatory region variant	—
rs922097086	11:62,380,212	C/T	—	uncertain significance
rs866691973	11:62,380,227	G/A	—	uncertain significance
rs539586649	11:62,380,255	G/C	—	uncertain significance
rs886048435	11:62,380,259	G/T	—	uncertain significance
rs3825019	11:62,380,260	G/A	—	likely benign
rs572174792	11:62,380,272	G/C	—	likely benign
rs576371643	11:62,380,316	G/A	—	benign
rs3923805	11:62,380,425	G/T	—	benign
rs886048437	11:62,380,453	C/T	—	uncertain significance
rs1029157002	11:62,380,517	G/T	—	uncertain significance
rs886048438	11:62,380,636	G/C	—	uncertain significance
rs886048439	11:62,380,727	C/T	—	uncertain significance
rs779471039	11:62,380,761	C/T	—	uncertain significance
rs746554322	11:62,380,762	G/T	—	likely benign
rs1942929918	11:62,380,763	G/A	—	uncertain significance
rs1942930057	11:62,380,768	G/T	—	uncertain significance
rs2496219478	11:62,380,769	C/T	—	uncertain significance
rs1942930648	11:62,380,773	T/G	—	uncertain significance
rs370079204	11:62,380,782	C/G	—	uncertain significance
rs149542418	11:62,380,783	C/T	—	likely benign
rs1036218993	11:62,380,793	C/A	—	uncertain significance
rs762955801	11:62,380,794	G/A	—	uncertain significance
rs1942932307	11:62,380,796	A/G	—	uncertain significance
rs143166696	11:62,380,800	G/A	—	conflicting classifications of pathogenicity
rs774331848	11:62,380,805	G/T	—	uncertain significance
rs2496219869	11:62,380,811	G/A	—	uncertain significance
rs186331143	11:62,380,816	C/T	—	likely benign
rs750676165	11:62,380,817	T/G	—	uncertain significance
rs766769824	11:62,380,823	C/T	—	uncertain significance
rs148196509	11:62,380,834	G/T	—	conflicting classifications of pathogenicity
rs531154214	11:62,380,840	G/A	—	likely benign
rs2496220058	11:62,380,845	C/G	—	uncertain significance
rs2134420477	11:62,380,846	T/C	—	likely benign
rs550851372	11:62,380,847	G/A	—	uncertain significance
rs745531803	11:62,380,851	G/A	—	uncertain significance
rs769266825	11:62,380,852	C/T	—	likely benign
rs779756067	11:62,380,853	G/A	—	uncertain significance
rs749095787	11:62,380,859	C/T	—	uncertain significance
rs1178495697	11:62,380,861	C/T	—	likely benign
rs748039721	11:62,380,890	T/G	—	uncertain significance
rs1942937951	11:62,380,898	C/G	—	uncertain significance
rs141126730	11:62,380,901	G/A	—	uncertain significance
rs2134420695	11:62,380,905	C/T	—	uncertain significance
rs760739312	11:62,380,906	C/T	—	likely benign
rs1942938848	11:62,380,911	T/A	—	uncertain significance
rs2496220491	11:62,380,913	G/A	—	uncertain significance
rs1942939046	11:62,380,914	C/T	—	uncertain significance
rs2134420753	11:62,380,915	T/A	—	likely benign
rs373744940	11:62,380,918	C/T	—	likely benign
rs199847029	11:62,380,920	C/T	—	uncertain significance
rs199757012	11:62,380,931	C/A	—	uncertain significance
rs2496220653	11:62,380,935	T/C	—	uncertain significance
rs886048440	11:62,380,936	C/A	—	conflicting classifications of pathogenicity
rs767143462	11:62,380,943	C/T	—	uncertain significance
rs750025202	11:62,380,946	G/C	—	uncertain significance
rs376984372	11:62,380,948	T/C	—	likely benign
rs779622951	11:62,380,952	C/G	—	uncertain significance
rs748940521	11:62,380,959	C/T	—	uncertain significance
rs778632325	11:62,380,963	C/T	—	likely benign
rs748080594	11:62,380,964	G/A	—	uncertain significance
rs772062487	11:62,380,965	C/T	—	uncertain significance
rs886042979	11:62,380,966	G/A	—	conflicting classifications of pathogenicity
rs146227174	11:62,380,976	G/A	—	uncertain significance
rs747140028	11:62,380,977	G/A	—	uncertain significance
rs1036187889	11:62,380,983	G/A	—	uncertain significance
rs923146798	11:62,380,990	G/C	—	likely benign
rs776746931	11:62,380,998	G/A	—	uncertain significance
rs2134421079	11:62,381,005	C/G	—	uncertain significance
rs759752657	11:62,381,006	C/T	—	uncertain significance
rs765535820	11:62,381,007	G/A	—	uncertain significance
rs139112694	11:62,381,009	G/T	—	uncertain significance
rs546648976	11:62,381,010	C/A	—	uncertain significance
rs764759239	11:62,381,013	G/A	—	uncertain significance
rs142181130	11:62,381,021	G/A	—	uncertain significance
rs398123334	11:62,381,022	C/T	—	uncertain significance
rs747994561	11:62,381,039	T/G	—	uncertain significance
rs201595136	11:62,381,042	C/T	—	uncertain significance
rs112384116	11:62,381,043	G/A	—	uncertain significance
rs746923377	11:62,381,045	G/A	—	uncertain significance
rs781273918	11:62,381,054	G/A	—	uncertain significance
rs746084145	11:62,381,056	C/T	—	likely benign
rs1451332545	11:62,381,058	C/T	—	uncertain significance
rs370606667	11:62,381,059	G/T	—	likely benign
rs1002478260	11:62,381,065	G/A	—	likely benign
rs775843049	11:62,381,069	G/C	—	uncertain significance
rs1590769357	11:62,381,071	T/C	—	likely benign
rs146358003	11:62,381,076	C/T	—	uncertain significance
rs139662841	11:62,381,077	G/A	—	likely benign
rs762335852	11:62,381,078	G/C	—	uncertain significance
rs1942949873	11:62,381,079	C/T	—	uncertain significance
rs2496221933	11:62,381,081	G/T	—	uncertain significance
rs753452550	11:62,381,084	G/T	—	uncertain significance
rs1471124609	11:62,381,085	G/A	—	uncertain significance
rs150065017	11:62,381,086	G/C	—	likely benign
rs752310749	11:62,381,087	G/C	—	uncertain significance
rs1448631210	11:62,381,088	G/A	—	uncertain significance
rs1012304035	11:62,381,089	G/C	—	likely benign
rs145383959	11:62,381,091	G/C	—	uncertain significance
rs757153881	11:62,381,092	G/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.