ARMS2

age-related maculopathy susceptibility 2

Summary

This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]

Known Variants31 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886046769	10:124,214,184	G/T	—	uncertain significance
rs186211237	10:124,214,235	G/A	—	likely benign
rs10490923	10:124,214,251	G/A	missense variant	benign
rs778271975	10:124,214,266	C/T	—	uncertain significance
rs200123144	10:124,214,282	G/A	—	uncertain significance
rs2736911	10:124,214,355	C/T	stop gained	likely benign
rs2497554034	10:124,214,413	G/A	—	uncertain significance
rs771958062	10:124,214,436	A/G	—	uncertain significance
rs10490924	10:124,214,448	G/T	missense variant	benign
rs1466439612	10:124,214,475	C/G	—	uncertain significance
rs17623531	10:124,214,921	C/T	intron variant	—
rs36212732	10:124,215,198	A/G	intron variant	—
rs36212733	10:124,215,211	T/G	—	—
rs3750848	10:124,215,315	T/G	intron variant	—
rs3750847	10:124,215,421	C/T	intron variant	not provided
rs3750846	10:124,215,565	T/C	intron variant	—
rs10664316	10:124,216,385	—	—	—
rs7088128	10:124,216,410	A/G	—	likely benign
rs985461581	10:124,216,429	A/T	—	uncertain significance
rs886046771	10:124,216,464	A/G	—	uncertain significance
rs150019974	10:124,216,494	T/G	—	likely benign
rs183542198	10:124,216,556	T/G	—	likely benign
rs536799180	10:124,216,610	C/T	—	likely benign
rs79134213	10:124,216,653	C/A	—	likely benign
rs578150200	10:124,216,700	T/C	—	uncertain significance
rs1237612173	10:124,216,762	G/C	—	uncertain significance
rs4752698	10:124,216,822	T/G	—	likely benign
rs566108895	10:124,216,823	G/T	—	benign
rs2672602	10:124,216,825	T/C	—	likely benign
rs2672603	10:124,216,834	A/C	—	likely benign
rs2097478012	10:124,216,848	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.