rs121912856, COL7A1

N. diseases: 13
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.
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.800 1.000 17 1993 2012
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
15 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.720 1.000 5 1996 2012
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
25 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
4 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Epidermolysis Bullosa Pruriginosa
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
11 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
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 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Epidermolysis bullosa, pretibial
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
10 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Skin Erosion
CUI: C3887524
Disease: Skin Erosion
2 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
TOENAIL DYSTROPHY, ISOLATED
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
Transient bullous dermolysis of the newborn
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0