Disease: SOTOS SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784148
rs587784148
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C4551477
Disease:
SOTOS SYNDROME 1 		T 0.700 CausalMutation CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003