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: rs747912732
rs747912732
COL7A1
1.000 0.080 3 48585068 frameshift variant -/C delins 2.0E-05 7.0E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 1 2007 2007
dbSNP: rs1057517723
rs1057517723
COL7A1 ; MIR711
1.000 0.080 3 48579489 frameshift variant -/G delins
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 3 2006 2017
dbSNP: rs768128088
rs768128088
COL7A1
1.000 0.080 3 48573864 frameshift variant -/G delins 5.6E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1064797079
rs1064797079
COL7A1
1.000 0.080 3 48588988 stop gained -/TCAG delins
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1560241522
rs1560241522
COL7A1
1.000 0.080 3 48583945 frameshift variant A/- del
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 0
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: 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: rs121912848
rs121912848
COL7A1
3 48575125 missense variant C/A snv
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912833
rs121912833
COL7A1
0.925 0.080 3 48584742 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
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: 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: rs1057517724
rs1057517724
COL7A1
1.000 0.080 3 48576771 missense variant C/G snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs121912840
rs121912840
COL7A1
0.925 0.120 3 48581483 missense variant C/G snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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: rs730880285
rs730880285
COL7A1 ; MIR711
1.000 0.080 3 48580881 splice donor variant C/G snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs121912834
rs121912834
COL7A1
0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912834
rs121912834
COL7A1
0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		0.700 0
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: rs121912837
rs121912837
COL7A1
1.000 0.080 3 48573047 missense variant C/G;T snv
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
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: rs121912841
rs121912841
COL7A1 ; MIR711
0.925 0.120 3 48578497 missense variant C/G;T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0