Disease: Mitochondrial Complex II Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205436
rs786205436
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		0.810 GeneticVariation BEFREE A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
dbSNP: rs786205436
rs786205436
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		G 0.810 CausalMutation CLINVAR
dbSNP: rs786205436
rs786205436
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		0.810 GeneticVariation UNIPROT
dbSNP: rs202198133
rs202198133
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs202198133
rs202198133
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1855008
Disease:
Mitochondrial Complex II Deficiency 		T 0.700 CausalMutation CLINVAR