Have questions? Visit https://www.reddit.com/r/SNPedia

rs35856562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35856562(A;G)
Make rs35856562(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position186182258
GeneHMCN1
is asnp
is mentioned by
dbSNPrs35856562
ebirs35856562
HLIrs35856562
Exacrs35856562
Varsomers35856562
Maprs35856562
PheGenIrs35856562
hapmaprs35856562
1000 genomesrs35856562
hgdprs35856562
ensemblrs35856562
gopubmedrs35856562
geneviewrs35856562
scholarrs35856562
googlers35856562
pharmgkbrs35856562
gwascentralrs35856562
openSNPrs35856562
23andMers35856562
23andMe allrs35856562
SNP Nexus

SNPshotrs35856562
SNPdbers35856562
MSV3drs35856562
GWAS Ctlgrs35856562
GMAF0.001377
Max Magnitude0
Venter snp
Source plos
Gene HMCN1
allele G
frequency
sift TOLERATED
HuRef 1103675282845
Disease Association 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.