rs1057516048, NSD1

N. diseases: 8
Disease: SOTOS SYNDROME 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016