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: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.800 1.000 17 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 14 1993 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 14 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 14 1993 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: 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: 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: 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: rs121912833
rs121912833
COL7A1
0.925 0.080 3 48584742 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 14 1993 2010
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: 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: 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: 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: 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: 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: rs767539005
rs767539005
COL7A1
1.000 0.080 3 48574262 splice region variant C/T snv 5.6E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 4 1996 2007
dbSNP: rs121912843
rs121912843
COL7A1
0.925 0.080 3 48575475 missense variant C/T snv 4.1E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 1 1998 1998
dbSNP: rs1560219171
rs1560219171
COL7A1
1.000 0.080 3 48576286 missense variant C/T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 1.000 1 2008 2008
dbSNP: rs1055680335
rs1055680335
COL7A1
0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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: rs1064797078
rs1064797078
COL7A1
1.000 0.080 3 48595159 start lost T/C snv
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: rs1064797080
rs1064797080
COL7A1
1.000 0.080 3 48575678 frameshift variant TTCG/- delins
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1064797081
rs1064797081
COL7A1
1.000 0.080 3 48566686 missense variant C/T snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1064797082
rs1064797082
COL7A1
1.000 0.080 3 48581288 frameshift variant G/- delins
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0