Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123676
rs398123676
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		G 0.700 GeneticVariation CLINVAR Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. 26257134

2015
dbSNP: rs398123676
rs398123676
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		G 0.700 CausalMutation CLINVAR Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. 18378174

2008
dbSNP: rs398123676
rs398123676
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		G 0.700 GeneticVariation CLINVAR Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. 18378174

2008