Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519087
rs1057519087
MFSD2A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation BEFREE Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. 26005865

2015