KDM2B, lysine demethylase 2B, 84678

N. diseases: 86; N. variants: 6
Disease: Muscle hypotonia ×
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: rs782304760
rs782304760 		0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0