MUC4, mucin 4, cell surface associated, 4585

N. diseases: 183; N. variants: 24
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: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
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 2012 2012