COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails ×
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: rs201728948
rs201728948 		0.790 0.120 3 48570639 splice region variant C/T snv 3.0E-05 5.6E-05
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0