Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
0.030 GeneticVariation BEFREE The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients. 29721928

2018
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
0.030 GeneticVariation BEFREE Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. 22110650

2011
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
0.030 GeneticVariation BEFREE All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner. 16123441

2005