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: rs797045057
rs797045057
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C4551477
Disease:
SOTOS SYNDROME 1 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045057
rs797045057
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C4551477
Disease:
SOTOS SYNDROME 1 		T 0.700 CausalMutation CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005