Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mitochondrial aminoacyl-tRNA synthetases in human disease. 23433712 2013
dbSNP: rs587777585
rs587777585
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Human diseases with impaired mitochondrial protein synthesis. 21708121 2011