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: rs121912837
rs121912837
COL7A1
1.000 0.080 3 48573047 missense variant C/G;T snv
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		0.700 1.000 2 1999 2000
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: 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 1 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 1 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 1 1998 1998
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 1 2002 2002
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: 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: 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: rs1032335328
rs1032335328
COL7A1 ; MIR711
0.925 0.080 3 48579271 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
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: 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: 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 1 2002 2002
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