Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762425351
rs762425351
CRAT
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020