ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
Disease: Epidermolysis bullosa with pyloric atresia ×
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: rs201494421
rs201494421 		1.000 0.080 17 75730256 missense variant C/G;T snv 8.1E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2001