Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78900282
rs78900282
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs9342115
rs9342115
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs757743894
rs757743894
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR RARS2 mutations in a sibship with infantile spasms. 27061686 2016
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs757743894
rs757743894
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. 22086604 2012
dbSNP: rs1258569046
rs1258569046
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
T 0.700 GeneticVariation CLINVAR
dbSNP: rs147391618
rs147391618
Entrez Id: 23595;57038
Gene Symbol: ORC3;RARS2
ORC3;RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554203400
rs1554203400
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
T 0.700 GeneticVariation CLINVAR
dbSNP: rs199835443
rs199835443
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
A 0.700 CausalMutation CLINVAR
dbSNP: rs387907048
rs387907048
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs750433723
rs750433723
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
T 0.700 GeneticVariation CLINVAR
dbSNP: rs756696262
rs756696262
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 GeneticVariation CLINVAR
dbSNP: rs759922477
rs759922477
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
T 0.700 CausalMutation CLINVAR
dbSNP: rs765088174
rs765088174
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 GeneticVariation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C1859520
Disease:
Progressive spasticity
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0333068
Disease:
Flexion contracture
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0036439
Disease:
Scoliosis, unspecified
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0557874
Disease:
Global developmental delay
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0431352
Disease:
Secondary microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0036572
Disease:
Seizures
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C0007933
Disease:
Meibomian Cyst
C 0.700 CausalMutation CLINVAR
dbSNP: rs772887102
rs772887102
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C4551563
Disease:
Microcephaly (physical finding)
C 0.700 CausalMutation CLINVAR
dbSNP: rs774923951
rs774923951
Entrez Id: 23595;57038
Gene Symbol: ORC3;RARS2
ORC3;RARS2
CUI: C1969084
Disease:
Pontocerebellar Hypoplasia Type 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs775295739
rs775295739
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C4021085
Disease:
Abnormality of brain morphology
G 0.700 GeneticVariation CLINVAR