Gene: HARS2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515410
rs397515410
HARS2
0.800 GeneticVariation UNIPROT Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. 31449985

2020
dbSNP: rs397515410
rs397515410
HARS2
0.800 GeneticVariation UNIPROT Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 21464306

2011