DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs889145646
rs889145646
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C1834671
Disease:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.700 GeneticVariation UNIPROT Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. 27153398 2016