Source: UNIPROT

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: rs866061439
rs866061439
COL7A1
1.000 0.080 3 48575233 missense variant C/T snv 7.0E-06
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 1.000 14 1994 2010
dbSNP: rs770304825
rs770304825
COL7A1 ; MIR711
1.000 0.080 3 48580047 missense variant C/T snv 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
dbSNP: rs766931219
rs766931219
COL7A1
1.000 0.080 3 48575445 missense variant C/G snv 4.2E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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 14 1994 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 2 1999 2000
dbSNP: rs760891216
rs760891216
COL7A1
1.000 0.080 3 48568819 missense variant C/T snv 2.1E-05 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
dbSNP: rs755669902
rs755669902
COL7A1
1.000 0.080 3 48574549 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
dbSNP: rs387906605
rs387906605
COL7A1
0.925 0.080 3 48582512 missense variant C/T snv
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 1.000 14 1994 2010
dbSNP: rs374718902
rs374718902
COL7A1 ; MIR711
1.000 0.080 3 48579241 missense variant C/G;T snv 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs369591910
rs369591910
COL7A1
1.000 0.080 3 48566995 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 1.000 14 1994 2010
dbSNP: rs1553854678
rs1553854678
COL7A1
1.000 0.080 3 48575355 missense variant C/T snv
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 1.000 14 1994 2010
dbSNP: rs147089666
rs147089666
COL7A1
1.000 0.080 3 48584508 missense variant G/A snv 8.0E-06; 4.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1439299333
rs1439299333
COL7A1 ; MIR711
1.000 0.080 3 48580908 missense variant C/T snv 4.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
dbSNP: rs142566193
rs142566193
COL7A1
0.925 0.080 3 48566303 missense variant G/A snv 1.1E-03 1.1E-03
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.700 1.000 14 1994 2010
dbSNP: rs139318843
rs139318843
COL7A1
1.000 0.080 3 48568101 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
dbSNP: rs1333259313
rs1333259313
COL7A1
1.000 0.080 3 48566545 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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 14 1993 2012
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 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 14 1993 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 14 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 14 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 14 1993 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 14 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 16 1989 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 14 1994 2010