Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149782619
rs149782619
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		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
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		G 0.810 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087 2016
dbSNP: rs149782619
rs149782619
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		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
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		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
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		G 0.810 CausalMutation CLINVAR Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs149782619
rs149782619
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.810 GeneticVariation UNIPROT
dbSNP: rs373849532
rs373849532
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs397514489
rs397514489
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs397514490
rs397514490
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs397514491
rs397514491
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs397514493
rs397514493
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
dbSNP: rs373849532
rs373849532
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
dbSNP: rs397514489
rs397514489
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
dbSNP: rs397514490
rs397514490
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
dbSNP: rs397514491
rs397514491
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
dbSNP: rs397514493
rs397514493
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
dbSNP: rs373849532
rs373849532
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514489
rs397514489
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397514490
rs397514490
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514491
rs397514491
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514493
rs397514493
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs202135714
rs202135714
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C2985280
Disease:
Blood Protein Measurement 		CT 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1554088064
rs1554088064
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1561537267
rs1561537267
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C1842587
Disease:
Sensory axonal neuropathy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397514492
rs397514492
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
CUI: C0242287
Disease:
Isaacs syndrome 		A 0.700 CausalMutation CLINVAR