Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908537
rs121908537
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 23759946 2013
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 23759946 2013
dbSNP: rs397515462
rs397515462
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 23759946 2013
dbSNP: rs121908537
rs121908537
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286 2007
dbSNP: rs121908537
rs121908537
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286 2007
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
dbSNP: rs397515462
rs397515462
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
dbSNP: rs397515462
rs397515462
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286 2007
dbSNP: rs121908537
rs121908537
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282 2005
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282 2005
dbSNP: rs397515462
rs397515462
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282 2005
dbSNP: rs121908537
rs121908537
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515462
rs397515462
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1041070
rs1041070
Entrez Id: 8803;100861549;107984570
Gene Symbol: SUCLA2;LINC00562;LINC00444
SUCLA2;LINC00562;LINC00444
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs113994161
rs113994161
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555256440
rs1555256440
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2749864
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C0023530
Disease:
Leukopenia 		0.030 GeneticVariation BEFREE A significantly higher thiopurine-induced leukopenia risk was found for TPMT (OR 3.9, 95% [CI] 2.5-6.1) and for NUDT15 R139C (OR 6.9, 95% CI 5.2-9.1), G52A (OR 3.2, 95% CI 1.3-7.9) and 36_37ins/delGGAGTC variant carriers (OR 5.6, 95% CI 2.8-11.4). 31342537 2019
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C0023530
Disease:
Leukopenia 		0.030 GeneticVariation BEFREE Subgroup analysis for rs186364861 and rs554405994 revealed a significant DOR for early-onset leukopenia (rs186364861: 4.04, 95% CI 1.78-9.20; rs554405994: 2.94, 95% CI 1.74-4.95), but not for late-onset leukopenia (rs186364861: 1.52, 95% CI 0.52-4.43; rs554405994: 2.02, 95% CI 0.93-4.40). 30048756 2018
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C0023530
Disease:
Leukopenia 		0.030 GeneticVariation BEFREE We confirmed that NUDT15 c.415C>T, c.36_37insGGAGTC, and c.52G>A variants were risk factors for thiopurine-induced leukopenia. 28570428 2017
dbSNP: rs121908538
rs121908538
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C0852733
Disease:
Completed Suicide 		0.010 GeneticVariation BEFREE However, additional association tests yielded four significant PsychArray variants (SP110, rs181058279; AGBL2, rs76215382; SUCLA2, rs121908538; APH1B, rs745918508), raising the likelihood that these genes confer risk of completed suicide. 30353169 2018
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.010 GeneticVariation BEFREE We aimed to further confirm the influence of 3 NUDT15 variants (c.415C>T, c.36_37insGGAGTC, and c.52G>A) on thiopurine-induced leukopenia in Chinese patients with IBD. 28570428 2017
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 GeneticVariation BEFREE In 270 children enrolled in clinical trials for acute lymphoblastic leukemia in Guatemala, Singapore and Japan, we identified four NUDT15 coding variants (p.Arg139Cys, p.Arg139His, p.Val18Ile and p.Val18_Val19insGlyVal) that resulted in 74.4-100% loss of nucleotide diphosphatase activity. 26878724 2016
dbSNP: rs186364861
rs186364861
Entrez Id: 8803;55270
Gene Symbol: SUCLA2;NUDT15
SUCLA2;NUDT15
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE In 270 children enrolled in clinical trials for acute lymphoblastic leukemia in Guatemala, Singapore and Japan, we identified four NUDT15 coding variants (p.Arg139Cys, p.Arg139His, p.Val18Ile and p.Val18_Val19insGlyVal) that resulted in 74.4-100% loss of nucleotide diphosphatase activity. 26878724 2016