ZNRD2, zinc ribbon domain containing 2, 10534

N. diseases: 311; N. variants: 7
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT ×
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: rs758434928
rs758434928 		0.925 0.160 11 65570895 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012