Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514490
rs397514490
0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002

2012

dbSNP: rs397514490
rs397514490
0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243

2006

dbSNP: rs397514490
rs397514490
A 0.800 CausalMutation CLINVAR