Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562305497
rs1562305497
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365

2005
dbSNP: rs1562305497
rs1562305497
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005