Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799990
rs1799990
PRNP
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 GeneticVariation BEFREE This study reports a novel p.S17G mutation in a clinically diagnosed LOAD patient, suggesting that the PRNP mutation is present in Chinese AD patients, whereas, M129V polymorphism is not a risk factor for AD or FTD in the Chinese Han population. 27910931

2016