Variant: rs121918214

present in Gene: FTO present in Chromosome: 16 Position on Chromosome: 53873837 Alleles of this Variant: G/A

rs121918214 in FTO gene and Growth Retardation, Developmental Delay, Coarse Facies, And Early Death PMID 22002720 2011 N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO.

PMID 26697951 2016 FTO variant associated with malformation syndrome.

PMID 26378117 2016 Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

PMID 19559399 2009 Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.