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: rs879253860
rs879253860
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C4551477
Disease:
SOTOS SYNDROME 1 		GC 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015