Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
G 0.700 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012

dbSNP: rs267607048
rs267607048
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
G 0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009