COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
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: rs74780677
rs74780677 		3 48564341 3 prime UTR variant A/G snv 1.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121912848
rs121912848 		3 48575125 missense variant C/A snv
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 17 1993 2012
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 5 1996 2012
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-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
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs762162799
rs762162799 		0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 15 1994 2010
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2016
dbSNP: rs886058642
rs886058642 		0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1999 2007
dbSNP: rs762162799
rs762162799 		0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 1999 2000
dbSNP: rs762162799
rs762162799 		0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-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