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: 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 5 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: rs1032335328
rs1032335328
COL7A1 ; MIR711
0.925 0.080 3 48579271 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.700 1.000 3 1999 2017
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: 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: 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: rs1055680335
rs1055680335
COL7A1
0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		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: rs121912836
rs121912836
COL7A1
0.882 0.080 3 48575392 missense variant C/A;T snv
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.020 1.000 2 1998 2004
dbSNP: rs1228667876
rs1228667876
COL7A1
1.000 0.080 3 48586123 missense variant G/A snv 8.0E-06
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2018 2018
dbSNP: rs1368134215
rs1368134215
COL7A1
0.925 0.080 3 48575673 stop gained G/A snv
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2000 2000
dbSNP: rs143457874
rs143457874
COL7A1 ; UCN2
0.925 0.080 3 48565636 stop gained G/A snv 4.0E-06 2.8E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2004 2004
dbSNP: rs372166543
rs372166543
COL7A1 ; UCN2
0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2004 2004
dbSNP: rs372918810
rs372918810
COL7A1
1.000 0.080 3 48593553 missense variant C/T snv 1.1E-04 5.6E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2018 2018