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: 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: rs1032335328
rs1032335328 		0.925 0.080 3 48579271 missense variant G/A snv 8.0E-06 7.0E-06
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 2017
dbSNP: rs1055680335
rs1055680335 		0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1055680335
rs1055680335 		0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
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: 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: rs1057517724
rs1057517724 		1.000 0.080 3 48576771 missense variant C/G snv
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: 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: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		0.700 0
dbSNP: rs1064797078
rs1064797078 		1.000 0.080 3 48595159 start lost T/C snv
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: rs1064797079
rs1064797079 		1.000 0.080 3 48588988 stop gained -/TCAG delins
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: rs1064797080
rs1064797080 		1.000 0.080 3 48575678 frameshift variant TTCG/- delins
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: rs1064797081
rs1064797081 		1.000 0.080 3 48566686 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 0.700 0
dbSNP: rs1064797082
rs1064797082 		1.000 0.080 3 48581288 frameshift variant G/- delins
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: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;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 0
dbSNP: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
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: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
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: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
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: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/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 0.700 0
dbSNP: rs1203706188
rs1203706188 		0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
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: 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