Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11466112
rs11466112
0.710 GeneticVariation BEFREE To test this hypothesis and provide a mechanistic basis to the HSAN V phenotype, we generated transgenic mice harboring the human 661C>T mutation in the <i>Ngf</i> gene and studied both males and females. 31685654

2019

dbSNP: rs11466112
rs11466112
A 0.710 CausalMutation CLINVAR

dbSNP: rs1272434944
rs1272434944
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

dbSNP: rs769190598
rs769190598
0.010 GeneticVariation BEFREE Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. 30384131

2018