Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 3 1999 2007
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
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 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.700 0
dbSNP: rs886058642
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		0.700 0