Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057523165
rs1057523165
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: rs1057523165
rs1057523165
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