Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
G 0.700 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
G 0.700 GeneticVariation CLINVAR Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. 26072516

2015
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
G 0.700 GeneticVariation CLINVAR A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. 22930593

2013
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
G 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012