Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784191
rs587784191
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 22924495

2012
dbSNP: rs587784191
rs587784191
NSD1
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		G 0.700 GeneticVariation CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291

2005