rs762162799, COL7A1

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
25 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.810 1.000 15 1994 2010
Epidermolysis Bullosa Pruriginosa
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
11 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.800 1.000 2 1999 2000
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
10 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
Epidermolysis bullosa, pretibial
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
10 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
TOENAIL DYSTROPHY, ISOLATED
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
13 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
Transient bullous dermolysis of the newborn
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
13 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
Cockayne-Touraine Disease
CUI: C0079136
Disease: Cockayne-Touraine Disease
3 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.010 1.000 1 2004 2004