Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes. 27211866

2016
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. 27485310

2016
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure. 25753418

2015
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 25205790

2014
dbSNP: rs1555902810
rs1555902810
RBFOX2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. 16260614

2005