Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784199
rs587784199
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Somatic-gonadal mosaicism causing Sotos syndrome. 27604501

2016
dbSNP: rs587784199
rs587784199
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005
dbSNP: rs587784199
rs587784199
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365

2005
dbSNP: rs587784199
rs587784199
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005