ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
Disease: Epidermolysis bullosa simplex, Ogna type ×
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: rs758551913
rs758551913 		1.000 0.080 17 75742580 splice acceptor variant A/G snv 4.0E-06
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80338755
rs80338755 		0.925 0.080 17 75727423 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0