Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562305920
rs1562305920
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs1562305920
rs1562305920
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. 21972110

2011
dbSNP: rs1562305920
rs1562305920
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005