ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Flexion contracture ×
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: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0