Gene: LIPT2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs539962457
rs539962457
LIPT2 ; LOC100287896
0.800 GeneticVariation UNIPROT Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. 28757203

2017
dbSNP: rs753904927
rs753904927
LIPT2 ; LOC100287896
0.800 GeneticVariation UNIPROT Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. 28757203

2017
dbSNP: rs1190703859
rs1190703859
LIPT2 ; LOC100287896
0.800 GeneticVariation UNIPROT