Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1203706188
rs1203706188
COL7A1
7 0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs121912830
rs121912830
COL7A1
1 1.000 0.080 3 48592613 stop gained G/A;T snv 7.2E-05 0.700 0
dbSNP: rs121912840
rs121912840
COL7A1
2 0.925 0.120 3 48581483 missense variant C/G snv 0.700 0
dbSNP: rs121912841
rs121912841
COL7A1 ; MIR711
2 0.925 0.120 3 48578497 missense variant C/G;T snv 0.700 0
dbSNP: rs121912852
rs121912852
COL7A1
1 1.000 0.080 3 48570304 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1333259313
rs1333259313
COL7A1
1 1.000 0.080 3 48566545 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs142566193
rs142566193
COL7A1
2 0.925 0.080 3 48566303 missense variant G/A snv 1.1E-03 1.1E-03 0.700 0
dbSNP: rs144023803
rs144023803
COL7A1
9 0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs1553612617
rs1553612617
COL7A1
2 1.000 0.080 3 48586983 stop gained G/A snv 0.700 0
dbSNP: rs1559423385
rs1559423385
COL7A1
1 1.000 0.080 3 48587423 stop gained G/A snv 0.700 0
dbSNP: rs1559435706
rs1559435706
COL7A1
2 1.000 0.080 3 48591936 frameshift variant T/- del 0.700 0
dbSNP: rs1559444716
rs1559444716
COL7A1
1 1.000 0.080 3 48595076 splice region variant T/C snv 0.700 0
dbSNP: rs200972872
rs200972872
COL7A1
7 0.790 0.120 3 48576249 splice region variant C/T snv 8.8E-05 9.8E-05 0.700 0
dbSNP: rs201728948
rs201728948
COL7A1
7 0.790 0.120 3 48570639 splice region variant C/T snv 3.0E-05 5.6E-05 0.700 0
dbSNP: rs368007918
rs368007918
COL7A1
7 0.790 0.120 3 48591527 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs374718902
rs374718902
COL7A1 ; MIR711
1 1.000 0.080 3 48579241 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs730880285
rs730880285
COL7A1 ; MIR711
1 1.000 0.080 3 48580881 splice donor variant C/G snv 0.700 0
dbSNP: rs730880286
rs730880286
COL7A1
1 1.000 0.080 3 48586378 frameshift variant G/- delins 0.700 0
dbSNP: rs761234904
rs761234904
COL7A1
7 0.790 0.120 3 48584754 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs762162799
rs762162799
COL7A1
8 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.700 0
dbSNP: rs766931219
rs766931219
COL7A1
1 1.000 0.080 3 48575445 missense variant C/G snv 4.2E-06 0.700 0
dbSNP: rs767182886
rs767182886
COL7A1
1 1.000 0.080 3 48578320 splice donor variant C/T snv 0.700 0
dbSNP: rs768128088
rs768128088
COL7A1
1 1.000 0.080 3 48573864 frameshift variant -/G delins 5.6E-05 0.700 0
dbSNP: rs775288140
rs775288140
COL7A1
1 1.000 0.080 3 48593101 splice donor variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0