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: rs121912828
rs121912828 		1.000 0.080 3 48566281 missense variant A/T snv 7.0E-06
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 14 1993 2010
dbSNP: rs121912829
rs121912829 		1.000 0.080 3 48575401 missense variant C/T snv
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 0.800 1.000 14 1994 2010
dbSNP: rs121912838
rs121912838 		1.000 0.080 3 48575428 missense variant C/T snv 2.5E-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 0.800 1.000 14 1993 2010
dbSNP: rs121912842
rs121912842 		1.000 0.080 3 48575502 missense variant C/T snv
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 0.800 1.000 14 1994 2010
dbSNP: rs121912846
rs121912846 		1.000 0.080 3 48575409 missense variant C/T snv
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 0.800 1.000 14 1994 2010
dbSNP: rs121912849
rs121912849 		1.000 0.080 3 48575236 missense variant G/A;C snv 8.0E-06; 4.0E-06
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 14 1993 2010
dbSNP: rs121912850
rs121912850 		1.000 0.080 3 48575116 missense variant C/T snv
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 0.800 1.000 14 1994 2010
dbSNP: rs121912851
rs121912851 		1.000 0.080 3 48567736 missense variant C/T snv 1.4E-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 14 1993 2010
dbSNP: rs121912853
rs121912853 		1.000 0.080 3 48566719 stop gained C/A;T snv 1.2E-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 14 1993 2010
dbSNP: rs139318843
rs139318843 		1.000 0.080 3 48568101 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 14 1993 2010
dbSNP: rs1439299333
rs1439299333 		1.000 0.080 3 48580908 missense variant C/T snv 4.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 14 1993 2010
dbSNP: rs1553854678
rs1553854678 		1.000 0.080 3 48575355 missense variant C/T snv
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 1.000 14 1994 2010
dbSNP: rs369591910
rs369591910 		1.000 0.080 3 48566995 missense variant C/T snv 4.0E-06 7.0E-06
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 1.000 14 1994 2010
dbSNP: rs755669902
rs755669902 		1.000 0.080 3 48574549 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 14 1993 2010
dbSNP: rs760891216
rs760891216 		1.000 0.080 3 48568819 missense variant C/T snv 2.1E-05 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 14 1993 2010
dbSNP: rs770304825
rs770304825 		1.000 0.080 3 48580047 missense variant C/T snv 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 14 1993 2010
dbSNP: rs866061439
rs866061439 		1.000 0.080 3 48575233 missense variant C/T snv 7.0E-06
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 1.000 14 1994 2010
dbSNP: rs757415879
rs757415879 		1.000 0.080 3 48576272 stop gained G/A;T snv 1.2E-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 9 1999 2016
dbSNP: rs767539005
rs767539005 		1.000 0.080 3 48574262 splice region variant C/T snv 5.6E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2007
dbSNP: rs1057517723
rs1057517723 		1.000 0.080 3 48579489 frameshift variant -/G delins
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 2006 2017
dbSNP: rs121912837
rs121912837 		1.000 0.080 3 48573047 missense variant C/G;T snv
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2000
dbSNP: rs1057518706
rs1057518706 		1.000 0.080 3 48572667 splice region variant T/C snv
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 1.000 1 2006 2006
dbSNP: rs121912831
rs121912831 		1.000 0.080 3 48568098 missense variant C/A snv
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 1995 1995
dbSNP: rs121912835
rs121912835 		1.000 0.080 3 48582616 missense variant C/T snv
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 0.800 1.000 1 1998 1998
dbSNP: rs1228667876
rs1228667876 		1.000 0.080 3 48586123 missense variant G/A snv 8.0E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018