Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854632
rs878854632
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.700 GeneticVariation CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs878854632
rs878854632
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.700 GeneticVariation CLINVAR Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 23612575

2014
dbSNP: rs878854632
rs878854632
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.700 GeneticVariation CLINVAR SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors. 22974104

2012