Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255635
rs879255635
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). 27061120 2016