DNMT3L, DNA methyltransferase 3 like, 29947

N. diseases: 43; N. variants: 5
Disease: Machado-Joseph Disease ×
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: rs7354779
rs7354779 		0.827 0.200 21 44250887 missense variant T/C snv 0.21
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019