COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Junctional Epidermolysis Bullosa ×
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: rs1210666598
rs1210666598 		1.000 0.080 10 104034272 frameshift variant CAGGGGGTC/C;G delins 4.6E-06
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912771
rs121912771 		0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1997 1997
dbSNP: rs121912773
rs121912773 		0.925 0.080 10 104053072 missense variant C/T snv
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121912774
rs121912774 		0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000