RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA ×
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: rs397518481
rs397518481 		0.925 0.120 3 25501230 stop gained C/G;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013