KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Disease: Kabuki make-up syndrome ×
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: rs1555957146
rs1555957146 		1.000 0.120 X 44873613 frameshift variant A/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0