Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1272434944
rs1272434944
Entrez Id: 4803;112840934
Gene Symbol: NGF;NGF-AS1
NGF;NGF-AS1
CUI: C0020075
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 5
0.010 GeneticVariation BEFREE Our results suggest that the p.R121W NGF mutation causes HSAN5 through negating the ability of furin to cleave proNGF to produce NGF-β. 30296891 2019