RS1

retinoschisin 1

Summary

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

Known Variants333 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs756606916	X:18,660,122	C/A	—	likely benign
rs1057517433	X:18,660,126	A/G	stop lost	pathogenic
rs773102905	X:18,660,127	G/A	—	likely benign
rs1057517816	X:18,660,131	C/T	missense variant	pathogenic
rs104894929	X:18,660,132	A/G	missense variant	pathogenic
rs1800004	X:18,660,133	C/T	—	likely benign
rs1339570385	X:18,660,138	T/C	—	uncertain significance
rs2147188856	X:18,660,143	C/T	—	likely pathogenic
rs281865369	X:18,660,144	A/G	—	likely pathogenic
rs2147188867	X:18,660,145	C/G	—	uncertain significance
rs2518916314	X:18,660,148	C/T	—	likely benign
rs2518916326	X:18,660,151	C/T	—	likely benign
rs281865368	X:18,660,152	A/G	—	likely pathogenic
rs2147188877	X:18,660,155	T/A	—	pathogenic
rs281865367	X:18,660,156	C/G	—	likely pathogenic
rs281865364	X:18,660,161	C/T	—	pathogenic
rs281865365	X:18,660,162	G/A	missense variant	pathogenic
rs1602308821	X:18,660,167	G/A	—	pathogenic
rs281865363	X:18,660,168	C/T	—	likely pathogenic
rs1927598937	X:18,660,169	A/G	—	likely benign
rs757697856	X:18,660,170	A/T	—	likely pathogenic
rs281865362	X:18,660,173	C/T	missense variant	pathogenic
rs281865361	X:18,660,174	G/C	missense variant	pathogenic
rs281865360	X:18,660,178	G/T	missense variant	uncertain significance
rs2147188931	X:18,660,180	G/C	—	pathogenic
rs281865359	X:18,660,181	C/T	—	pathogenic
rs2147188942	X:18,660,182	C/G	—	likely pathogenic
rs104894930	X:18,660,191	G/A	missense variant	pathogenic
rs1927600619	X:18,660,192	G/T	—	pathogenic
rs1800003	X:18,660,193	G/A	—	not provided
rs771514400	X:18,660,199	G/A	—	benign
rs281865358	X:18,660,200	C/T	missense variant	pathogenic
rs281865357	X:18,660,201	G/A	—	pathogenic
rs200052722	X:18,660,202	G/T	—	likely benign
rs281865356	X:18,660,203	A/G	—	pathogenic
rs281865355	X:18,660,209	C/G	missense variant	pathogenic
rs281865354	X:18,660,210	G/A	—	pathogenic
rs1927602935	X:18,660,217	G/T	—	likely benign
rs1464991419	X:18,660,219	T/C	—	likely pathogenic
rs281865352	X:18,660,221	G/A	—	pathogenic
rs281865351	X:18,660,222	G/A	—	pathogenic
rs186334493	X:18,660,223	G/T	—	likely benign
rs61753175	X:18,660,224	G/A	—	pathogenic
rs61753174	X:18,660,225	G/C	missense variant	pathogenic
rs1402116265	X:18,660,227	C/T	—	uncertain significance
rs2147189059	X:18,660,232	C/G	—	likely benign
rs375231198	X:18,660,234	G/A	—	likely benign
rs2147189068	X:18,660,237	T/C	—	uncertain significance
rs769781603	X:18,660,244	C/G	—	likely benign
rs61753173	X:18,660,245	G/T	—	likely pathogenic
rs2518916654	X:18,660,247	G/A	—	likely benign
rs2518916663	X:18,660,249	A/G	—	uncertain significance
rs150172233	X:18,660,251	G/A	—	benign
rs1927606398	X:18,660,253	G/A	—	likely benign
rs2518916683	X:18,660,254	C/G	—	likely pathogenic
rs61753171	X:18,660,255	G/A	—	pathogenic
rs767660711	X:18,660,259	C/G	—	likely benign
rs760857618	X:18,660,260	G/A	—	uncertain significance
rs2518916725	X:18,660,265	G/C	—	likely benign
rs61753169	X:18,660,266	C/T	—	pathogenic
rs2147189125	X:18,660,268	A/C	—	pathogenic
rs2518916750	X:18,660,272	A/G	—	conflicting classifications of pathogenicity
rs1927607803	X:18,660,274	G/T	—	likely benign
rs281865349	X:18,660,278	T/C	—	pathogenic
rs2518916784	X:18,660,280	G/A	—	likely benign
rs1927608252	X:18,660,281	A/T	—	likely benign
rs1241552856	X:18,660,283	A/G	—	likely benign
rs142428831	X:18,660,286	T/G	—	benign
rs2518916806	X:18,660,287	A/G	—	likely benign
rs370113264	X:18,660,294	A/G	—	benign
rs996875452	X:18,660,296	C/A	—	likely benign
rs41309707	X:18,662,484	T/G	—	benign
rs201159090	X:18,662,532	G/C	—	likely benign
rs761024021	X:18,662,533	G/C	—	likely benign
rs2518919455	X:18,662,534	G/T	—	likely benign
rs1195987845	X:18,662,539	G/A	—	likely benign
rs1265219015	X:18,662,540	C/T	—	likely benign
rs1927692982	X:18,662,541	C/T	—	likely benign
rs2147191083	X:18,662,548	A/T	—	pathogenic
rs281865348	X:18,662,549	C/T	—	pathogenic
rs762407219	X:18,662,550	C/T	—	likely benign
rs765547068	X:18,662,551	C/T	—	uncertain significance
rs2518919518	X:18,662,553	G/A	—	likely benign
rs1218580579	X:18,662,559	T/G	—	likely benign
rs2147191113	X:18,662,561	C/T	—	pathogenic
rs1473665189	X:18,662,562	A/G	—	likely benign
rs2147191116	X:18,662,564	T/G	—	likely pathogenic
rs2518919549	X:18,662,567	G/A	—	pathogenic
rs61753168	X:18,662,571	C/G	—	not provided
rs61753167	X:18,662,573	T/C	—	likely pathogenic
rs1057516744	X:18,662,574	G/T	stop gained	pathogenic
rs2147191132	X:18,662,577	G/A	—	likely benign
rs61753166	X:18,662,583	C/T	—	not provided
rs2147191142	X:18,662,584	C/T	—	likely pathogenic
rs1927695346	X:18,662,585	A/C	—	likely pathogenic
rs758816133	X:18,662,593	C/T	—	uncertain significance
rs766007270	X:18,662,594	G/A	—	likely benign
rs2147191161	X:18,662,595	C/G	—	uncertain significance
rs2518919635	X:18,662,597	C/T	—	uncertain significance
rs1800002	X:18,662,600	C/T	—	likely benign

Showing 100 of 333 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.