HMCN1, hemicentin 1, 83872

N. diseases: 28; N. variants: 6
Disease: Macular Degeneration, Age-Related, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C1864205
Disease:
Macular Degeneration, Age-Related, 1 		0.700 GeneticVariation UNIPROT Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. 14570714 2003
dbSNP: rs879255520
rs879255520
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C1864205
Disease:
Macular Degeneration, Age-Related, 1 		T 0.700 CausalMutation CLINVAR