Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568318932
rs1568318932
NFIX
C 0.700 GeneticVariation CLINVAR Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 25118028

2015
dbSNP: rs1568318932
rs1568318932
NFIX
C 0.700 GeneticVariation CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863

2010