Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 CausalMutation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016