Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784176
rs587784176
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1. 24412544

2014
dbSNP: rs587784176
rs587784176
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965

2003