Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1180949
rs1180949
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1180949
rs1180949
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. 28077841 2017
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. 25629079 2015
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). 25385316 2015
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. 24639874 2014
dbSNP: rs1553183771
rs1553183771
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. 15779907 2005