Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149481147
rs149481147
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia
0.800 GeneticVariation UNIPROT

dbSNP: rs397514504
rs397514504
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia
0.800 GeneticVariation UNIPROT Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. 22825317

2012

dbSNP: rs397514504
rs397514504
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia
0.800 GeneticVariation UNIPROT Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. 10444331

1999