Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763841075
rs763841075
GRN
0.020 GeneticVariation BEFREE Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg. 27997711

2018

dbSNP: rs763841075
rs763841075
GRN
0.020 GeneticVariation BEFREE We describe three new patients affected by neurological syndromes included in the clinical spectrum of FTLD carrying the Cys139Arg genetic variant, thus suggesting a possible implication in the pathogenesis of FTLD. 24503614

2014