Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0431352
Disease:
Secondary microcephaly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0333068
Disease:
Flexion contracture 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C4551563
Disease:
Microcephaly (physical finding) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0007933
Disease:
Meibomian Cyst 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0036439
Disease:
Scoliosis, unspecified 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 CausalMutation CLINVAR
dbSNP: rs781417096
rs781417096
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1859520
Disease:
Progressive spasticity 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1377295140
rs1377295140
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1261175
Disease:
Pontoneocerebellar hypoplasia 		0.010 GeneticVariation BEFREE Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons. 24524299 2014
dbSNP: rs1377295140
rs1377295140
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0266468
Disease:
Congenital pontocerebellar hypoplasia 		0.010 GeneticVariation BEFREE Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons. 24524299 2014