Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514746
rs397514746
KARS1
0.800 GeneticVariation UNIPROT Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846

2017
dbSNP: rs397514746
rs397514746
KARS1
0.800 GeneticVariation UNIPROT Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514

2013
dbSNP: rs397514746
rs397514746
KARS1
T 0.800 CausalMutation CLINVAR Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514

2013