RAX

retina and anterior neural fold homeobox

Summary

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

Known Variants147 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs543553728	18:56,934,315	G/A	—	uncertain significance
rs9947104	18:56,934,358	A/G	—	likely benign
rs769710821	18:56,934,419	T/C	—	uncertain significance
rs960059255	18:56,934,441	G/A	—	uncertain significance
rs2070285648	18:56,934,465	C/T	—	uncertain significance
rs886054017	18:56,934,480	G/T	—	uncertain significance
rs75632360	18:56,934,490	C/T	—	benign
rs574039587	18:56,934,499	G/T	—	uncertain significance
rs2070286718	18:56,934,562	T/C	—	uncertain significance
rs2070287055	18:56,934,585	C/T	—	uncertain significance
rs45567434	18:56,934,672	A/G	—	benign
rs886054018	18:56,934,689	C/A	—	uncertain significance
rs777078818	18:56,934,711	C/T	—	uncertain significance
rs147621199	18:56,934,720	C/G	—	likely benign
rs114467275	18:56,934,799	C/A	—	uncertain significance
rs552418179	18:56,934,818	C/T	—	uncertain significance
rs886054019	18:56,934,847	G/C	—	uncertain significance
rs886054022	18:56,934,871	C/A	—	uncertain significance
rs1033066465	18:56,934,873	C/A	—	uncertain significance
rs549738316	18:56,934,874	C/G	—	uncertain significance
rs868825984	18:56,934,875	C/T	—	uncertain significance
rs1603388551	18:56,934,886	A/C	—	uncertain significance
rs78384549	18:56,934,917	A/G	—	likely benign
rs535434206	18:56,934,936	T/C	—	uncertain significance
rs75969240	18:56,934,964	C/T	—	likely benign
rs558754310	18:56,935,042	C/A	—	uncertain significance
rs2070294534	18:56,935,109	G/T	—	uncertain significance
rs1222023037	18:56,935,147	G/C	—	uncertain significance
rs537995548	18:56,935,198	G/A	—	uncertain significance
rs58797899	18:56,935,319	G/A	—	likely benign
rs45501496	18:56,935,328	A/G	—	likely benign
rs1051461355	18:56,935,379	C/A	—	uncertain significance
rs201904765	18:56,935,386	G/A	—	uncertain significance
rs142239322	18:56,935,439	C/G	—	uncertain significance
rs919529457	18:56,935,525	C/T	—	uncertain significance
rs1358722833	18:56,935,531	C/T	—	uncertain significance
rs146184316	18:56,935,827	C/T	—	benign
rs3744893	18:56,935,860	A/G	—	likely benign
rs1228654108	18:56,935,883	C/T	—	uncertain significance
rs886054024	18:56,935,908	T/C	—	uncertain significance
rs147759267	18:56,935,942	G/A	—	benign
rs3744892	18:56,935,945	G/A	—	likely benign
rs28774981	18:56,936,000	G/A	—	likely benign
rs564406163	18:56,936,116	G/C	—	uncertain significance
rs1016918167	18:56,936,148	G/A	—	uncertain significance
rs199835983	18:56,936,190	G/C	—	uncertain significance
rs373801363	18:56,936,207	G/A	—	uncertain significance
rs896866240	18:56,936,279	T/C	—	uncertain significance
rs764180472	18:56,936,310	T/C	—	uncertain significance
rs765024850	18:56,936,355	C/T	—	uncertain significance
rs775263241	18:56,936,356	G/C	—	uncertain significance
rs552408691	18:56,936,360	C/A	—	uncertain significance
rs866212043	18:56,936,361	C/T	—	uncertain significance
rs121909128	18:56,936,368	G/C	stop gained	pathogenic
rs7226481	18:56,936,395	T/C	—	benign
rs777646611	18:56,936,403	C/T	—	uncertain significance
rs770271072	18:56,936,410	C/A	—	uncertain significance
rs538022273	18:56,936,414	G/T	—	uncertain significance
rs2511486988	18:56,936,415	G/A	—	uncertain significance
rs762631419	18:56,936,420	G/C	—	uncertain significance
rs768229657	18:56,936,421	A/T	—	uncertain significance
rs368382344	18:56,936,439	G/T	—	uncertain significance
rs886054025	18:56,936,442	G/C	—	uncertain significance
rs760516983	18:56,936,477	G/A	—	uncertain significance
rs1234330530	18:56,936,486	C/G	—	uncertain significance
rs766154387	18:56,936,494	C/G	—	conflicting classifications of pathogenicity
rs1250408355	18:56,936,509	C/G	—	likely benign
rs1215784150	18:56,936,521	C/G	—	likely benign
rs1487028248	18:56,936,527	C/T	—	uncertain significance
rs752919963	18:56,936,532	G/A	—	likely benign
rs758557521	18:56,936,541	C/G	—	uncertain significance
rs777929939	18:56,936,548	G/T	—	likely benign
rs757339865	18:56,936,567	C/T	—	uncertain significance
rs1030481316	18:56,936,580	C/A	—	uncertain significance
rs770291686	18:56,936,593	C/T	—	likely benign
rs1169137333	18:56,936,594	G/C	—	uncertain significance
rs1373090225	18:56,936,597	C/T	—	uncertain significance
rs2070314960	18:56,936,620	C/A	—	likely benign
rs1323341006	18:56,936,638	G/A	—	likely benign
rs766173636	18:56,936,659	G/A	—	uncertain significance
rs753579122	18:56,936,665	C/T	—	conflicting classifications of pathogenicity
rs200647674	18:56,936,667	G/T	—	benign
rs121909127	18:56,936,702	C/T	missense variant	pathogenic
rs2070316408	18:56,936,717	C/T	—	pathogenic
rs2511487267	18:56,936,733	C/T	—	uncertain significance
rs769041045	18:56,936,740	G/A	—	likely benign
rs200098438	18:56,936,744	G/C	—	conflicting classifications of pathogenicity
rs142284323	18:56,936,970	C/T	—	likely benign
rs78356864	18:56,937,056	C/A	—	benign
rs2511488169	18:56,939,590	T/C	—	likely pathogenic
rs2511488172	18:56,939,598	C/G	—	uncertain significance
rs2070344729	18:56,939,615	T/C	—	uncertain significance
rs144080426	18:56,939,620	C/T	—	likely benign
rs61735442	18:56,939,625	C/G	—	uncertain significance
rs1178632580	18:56,939,637	C/A	—	pathogenic
rs754301606	18:56,939,639	C/G	—	uncertain significance
rs2070345774	18:56,939,687	T/C	—	uncertain significance
rs104894663	18:56,939,697	G/A	stop gained	pathogenic
rs779827862	18:56,939,710	A/G	—	likely benign
rs760910025	18:56,939,731	C/T	—	likely benign

Showing 100 of 147 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.