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: 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
dbSNP: rs1203706188
rs1203706188
COL7A1
0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs121912830
rs121912830
COL7A1
1.000 0.080 3 48592613 stop gained G/A;T snv 7.2E-05
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: 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
dbSNP: rs121912852
rs121912852
COL7A1
1.000 0.080 3 48570304 stop gained G/A snv 8.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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: rs142566193
rs142566193
COL7A1
0.925 0.080 3 48566303 missense variant G/A snv 1.1E-03 1.1E-03
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs144023803
rs144023803
COL7A1
0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1553612617
rs1553612617
COL7A1
1.000 0.080 3 48586983 stop gained G/A snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1559423385
rs1559423385
COL7A1
1.000 0.080 3 48587423 stop gained G/A snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1559435706
rs1559435706
COL7A1
1.000 0.080 3 48591936 frameshift variant T/- del
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs1559444716
rs1559444716
COL7A1
1.000 0.080 3 48595076 splice region variant T/C snv
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs200972872
rs200972872
COL7A1
0.790 0.120 3 48576249 splice region variant C/T snv 8.8E-05 9.8E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs201728948
rs201728948
COL7A1
0.790 0.120 3 48570639 splice region variant C/T snv 3.0E-05 5.6E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
dbSNP: rs368007918
rs368007918
COL7A1
0.790 0.120 3 48591527 stop gained G/A snv 8.0E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.700 0
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: 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