RAX2

retina and anterior neural fold homeobox 2

Summary

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants222 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs775609621	19:3,769,096	A/G	—	uncertain significance
rs1432848167	19:3,769,129	T/C	—	uncertain significance
rs886054363	19:3,769,136	G/A	—	uncertain significance
rs6510769	19:3,769,253	G/C	—	benign
rs138882802	19:3,769,295	T/C	—	benign
rs886054364	19:3,769,414	C/T	—	uncertain significance
rs554924169	19:3,769,450	C/T	—	likely benign
rs1860322	19:3,769,470	G/A	—	benign
rs886054365	19:3,769,474	C/T	—	uncertain significance
rs368356816	19:3,769,565	G/A	—	likely benign
rs886054366	19:3,769,647	A/T	—	uncertain significance
rs886054367	19:3,769,670	G/A	—	uncertain significance
rs748630795	19:3,769,701	C/T	—	uncertain significance
rs10405125	19:3,769,717	C/A	—	benign
rs2037229349	19:3,769,722	G/A	—	uncertain significance
rs917545	19:3,769,753	G/A	—	benign
rs917546	19:3,769,834	C/T	—	benign
rs929531306	19:3,769,835	G/A	—	uncertain significance
rs887917665	19:3,769,843	G/A	—	uncertain significance
rs901586216	19:3,769,868	C/T	—	uncertain significance
rs917547	19:3,769,899	C/T	—	benign
rs115071988	19:3,769,930	G/A	—	benign
rs1208248243	19:3,769,932	T/C	—	uncertain significance
rs28673245	19:3,769,939	C/T	—	benign
rs576669713	19:3,769,940	G/A	—	likely benign
rs1477435359	19:3,769,952	C/T	—	uncertain significance
rs112369501	19:3,769,972	A/G	—	benign
rs886054368	19:3,769,995	C/T	—	uncertain significance
rs760554835	19:3,770,067	G/A	—	uncertain significance
rs891425007	19:3,770,118	G/A	—	uncertain significance
rs73531473	19:3,770,238	T/C	—	benign
rs756898228	19:3,770,251	G/A	—	uncertain significance
rs1568400313	19:3,770,356	G/A	—	uncertain significance
rs1418917467	19:3,770,371	G/A	—	uncertain significance
rs565417258	19:3,770,418	G/A	—	uncertain significance
rs1449281671	19:3,770,424	C/T	—	uncertain significance
rs11883056	19:3,770,425	G/C	—	uncertain significance
rs150808899	19:3,770,428	G/A	—	likely benign
rs886054369	19:3,770,531	G/A	—	uncertain significance
rs139146360	19:3,770,574	G/A	—	likely benign
rs781395665	19:3,770,612	G/A	—	uncertain significance
rs1291600031	19:3,770,622	G/A	—	likely benign
rs2512317136	19:3,770,624	C/T	—	uncertain significance
rs1271231378	19:3,770,627	G/T	—	uncertain significance
rs769934766	19:3,770,628	C/T	—	likely benign
rs1207025589	19:3,770,629	G/T	—	uncertain significance
rs1285206637	19:3,770,630	G/A	—	uncertain significance
rs567006348	19:3,770,636	C/G	—	uncertain significance
rs1025462223	19:3,770,639	T/C	—	uncertain significance
rs2512317164	19:3,770,641	T/C	—	uncertain significance
rs1239523974	19:3,770,654	C/A	—	uncertain significance
rs1891440096	19:3,770,658	T/A	—	uncertain significance
rs773857866	19:3,770,660	C/T	—	uncertain significance
rs2145735879	19:3,770,661	C/G	—	uncertain significance
rs2512317201	19:3,770,663	T/C	—	uncertain significance
rs941485794	19:3,770,664	G/A	—	likely benign
rs1416399047	19:3,770,668	A/G	—	uncertain significance
rs202103390	19:3,770,674	C/T	—	conflicting classifications of pathogenicity
rs771011757	19:3,770,675	G/A	—	uncertain significance
rs771442676	19:3,770,683	G/A	—	uncertain significance
rs1016314982	19:3,770,695	G/A	—	uncertain significance
rs760415111	19:3,770,696	C/T	—	likely benign
rs763649255	19:3,770,697	G/A	—	likely benign
rs923302208	19:3,770,709	G/A	—	likely benign
rs1282782912	19:3,770,713	G/T	—	uncertain significance
rs1486188826	19:3,770,715	G/A	—	likely benign
rs753446591	19:3,770,719	G/A	—	uncertain significance
rs1230148971	19:3,770,728	T/C	—	uncertain significance
rs1439994082	19:3,770,730	A/G	—	likely benign
rs957818577	19:3,770,735	C/T	—	uncertain significance
rs1468184577	19:3,770,736	G/A	—	likely benign
rs149918940	19:3,770,742	C/T	—	conflicting classifications of pathogenicity
rs989493054	19:3,770,743	G/A	—	uncertain significance
rs113176673	19:3,770,744	C/A	—	uncertain significance
rs1310919721	19:3,770,748	C/T	—	likely benign
rs1391061686	19:3,770,752	C/T	—	uncertain significance
rs947549671	19:3,770,754	C/T	—	likely benign
rs1335212510	19:3,770,760	C/T	—	likely benign
rs978473853	19:3,770,761	G/A	—	uncertain significance
rs1248541458	19:3,770,763	G/A	—	likely benign
rs121908281	19:3,770,765	C/G	missense variant	pathogenic
rs1305878885	19:3,770,771	G/T	—	uncertain significance
rs941526473	19:3,770,774	G/A	—	uncertain significance
rs2512317458	19:3,770,775	G/A	—	likely benign
rs1250490026	19:3,770,786	G/A	—	uncertain significance
rs1037108094	19:3,770,787	C/T	—	likely benign
rs758285438	19:3,770,789	C/T	—	conflicting classifications of pathogenicity
rs895500531	19:3,770,793	C/T	—	likely benign
rs1253237453	19:3,770,794	G/A	—	uncertain significance
rs929891283	19:3,770,796	C/T	—	likely benign
rs537165398	19:3,770,797	G/A	—	uncertain significance
rs950155665	19:3,770,801	C/T	—	uncertain significance
rs1167236192	19:3,770,805	G/A	—	likely benign
rs1045743925	19:3,770,816	G/A	—	uncertain significance
rs2037248139	19:3,770,819	C/A	—	uncertain significance
rs755282511	19:3,770,829	C/T	—	benign
rs398124431	19:3,770,830	G/T	stop gained	pathogenic
rs1301564042	19:3,770,833	A/G	—	uncertain significance
rs1002124313	19:3,770,834	T/G	—	uncertain significance
rs2145736261	19:3,770,836	G/A	—	uncertain significance

Showing 100 of 222 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.