{{Rsnum
|rsid=35856562
|Gene=HMCN1
|Chromosome=1
|position=186182258
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HMCN1
}}{{Venter SNP
|rsid=35856562
|allele=G
|frequency=
|uid=1103675282845
|type=heterozygous_SNP
|hugo=HMCN1
|ensembl gene=ENSG00000143341
|ensembl transcript=ENST00000367492
|sift=TOLERATED
|disease=Defects in HMCN1 are the cause of age-related macular degeneration 1 (ARMD1) (MIM:603075). ARMD is the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast majority of cases are currently unknown. However, a number of studies have suggested that both genetic and environmental factors are likely to play a role.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}