SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
Disease: Early myoclonic encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		A 0.800 GeneticVariation CLINVAR Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		0.800 GeneticVariation UNIPROT Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1195505218
rs1195505218
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918335
rs121918335
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554965669
rs1554965669
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1565035177
rs1565035177
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777243
rs587777243
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs797045969
rs797045969
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy 		A 0.700 CausalMutation CLINVAR