Source: CLINVAR

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: rs762162799
rs762162799
COL7A1
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) 		0.810 1.000 0 1994 2010
dbSNP: rs121912856
rs121912856
COL7A1
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 		0.800 1.000 3 1993 2012
dbSNP: rs121912828
rs121912828
COL7A1
1.000 0.080 3 48566281 missense variant A/T snv 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 0 1993 2010
dbSNP: rs121912829
rs121912829
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912831
rs121912831
COL7A1
1.000 0.080 3 48568098 missense variant C/A snv
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.800 1.000 0 1995 1995
dbSNP: rs121912834
rs121912834
COL7A1
0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		0.800 1.000 0 1998 1998
dbSNP: rs121912835
rs121912835
COL7A1
1.000 0.080 3 48582616 missense variant C/T snv
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		0.800 1.000 0 1998 1998
dbSNP: rs121912836
rs121912836
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912838
rs121912838
COL7A1
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 		0.800 1.000 0 1993 2010
dbSNP: rs121912839
rs121912839
COL7A1
0.882 0.120 3 48572712 missense variant C/T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 0 1993 2010
dbSNP: rs121912840
rs121912840
COL7A1
0.925 0.120 3 48581483 missense variant C/G snv
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		0.800 1.000 0 2002 2002
dbSNP: rs121912841
rs121912841
COL7A1 ; MIR711
0.925 0.120 3 48578497 missense variant C/G;T snv
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		0.800 1.000 0 2002 2002
dbSNP: rs121912842
rs121912842
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912843
rs121912843
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912844
rs121912844
COL7A1
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) 		0.800 1.000 0 1989 2010
dbSNP: rs121912846
rs121912846
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912849
rs121912849
COL7A1
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 		0.800 1.000 0 1993 2010
dbSNP: rs121912850
rs121912850
COL7A1
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) 		0.800 1.000 0 1994 2010
dbSNP: rs121912851
rs121912851
COL7A1
1.000 0.080 3 48567736 missense variant C/T snv 1.4E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 0 1993 2010
dbSNP: rs121912853
rs121912853
COL7A1
1.000 0.080 3 48566719 stop gained C/A;T snv 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 0 1993 2010
dbSNP: rs762162799
rs762162799
COL7A1
0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		0.800 1.000 0 1999 2000
dbSNP: rs121912856
rs121912856
COL7A1
0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.720 1.000 4 1996 2012
dbSNP: rs144023803
rs144023803
COL7A1
0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 10 1994 2016
dbSNP: rs757415879
rs757415879
COL7A1
1.000 0.080 3 48576272 stop gained G/A;T snv 1.2E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 9 1999 2016
dbSNP: rs121912832
rs121912832
COL7A1
0.882 0.080 3 48575512 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 1986 2015