Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs553119528
rs553119528
GRN
0.020 GeneticVariation BEFREE We recently reported a Spanish family with progressive non-fluent aphasia and dementia in which a novel C521Y mutation segregates with disease. 20028451

2010
dbSNP: rs553119528
rs553119528
GRN
0.020 GeneticVariation BEFREE We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding. 19020205

2009