ZNF469, zinc finger protein 469, 84627

N. diseases: 101; N. variants: 27
Disease: Ehlers-Danlos syndrome 6B ×
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: rs387907063
rs387907063 		0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.710 1.000 1 2015 2015
dbSNP: rs387907062
rs387907062 		1.000 0.160 16 88437570 missense variant G/A snv
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0