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: 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: rs121912844
rs121912844 		0.925 0.080 3 48575419 missense variant C/T snv 4.2E-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 0.800 1.000 16 1989 2010
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: rs1032335328
rs1032335328 		0.925 0.080 3 48579271 missense variant G/A snv 8.0E-06 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: 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: rs121912832
rs121912832 		0.882 0.080 3 48575512 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: rs121912833
rs121912833 		0.925 0.080 3 48584742 missense variant C/A;G;T snv 4.0E-06; 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: rs121912836
rs121912836 		0.882 0.080 3 48575392 missense variant C/A;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: rs121912839
rs121912839 		0.882 0.120 3 48572712 missense variant C/T snv
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: rs121912843
rs121912843 		0.925 0.080 3 48575475 missense variant C/T snv 4.1E-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 0.800 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: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-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: 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: rs142566193
rs142566193 		0.925 0.080 3 48566303 missense variant G/A snv 1.1E-03 1.1E-03
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: 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: rs387906605
rs387906605 		0.925 0.080 3 48582512 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