Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149782619
rs149782619
HINT1
0.810 GeneticVariation BEFREE The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. 31848916

2020
dbSNP: rs149782619
rs149782619
HINT1
G 0.810 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs149782619
rs149782619
HINT1
G 0.810 CausalMutation CLINVAR A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 26182879

2015
dbSNP: rs149782619
rs149782619
HINT1
G 0.810 CausalMutation CLINVAR Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. 25342199

2015
dbSNP: rs149782619
rs149782619
HINT1
G 0.810 CausalMutation CLINVAR Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002

2012
dbSNP: rs149782619
rs149782619
HINT1
0.810 GeneticVariation UNIPROT