DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: Immunodeficiency syndrome, variable ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908941
rs121908941 		0.925 0.080 20 32802416 missense variant T/G snv 1.2E-05 2.1E-05
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 7 1999 2013