Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs762162799
COL7A1
0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 8
rs886058642
COL7A1
0.776 0.120 3 48590817 splice acceptor variant C/T snv 8
rs368007918
COL7A1
0.790 0.120 3 48591527 stop gained G/A snv 8.0E-06 7
rs121912839
COL7A1
0.882 0.120 3 48572712 missense variant C/T snv 3
rs1055680335
COL7A1
0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06 2
rs121912833
COL7A1
0.925 0.080 3 48584742 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 2
rs121912840
COL7A1
0.925 0.120 3 48581483 missense variant C/G snv 2
rs121912841
COL7A1 ; MIR711
0.925 0.120 3 48578497 missense variant C/G;T snv 2
rs121912843
COL7A1
0.925 0.080 3 48575475 missense variant C/T snv 4.1E-06 2
rs1368134215
COL7A1
0.925 0.080 3 48575673 stop gained G/A snv 2
rs1553612617
COL7A1
1.000 0.080 3 48586983 stop gained G/A snv 2
rs1559435706
COL7A1
1.000 0.080 3 48591936 frameshift variant T/- del 2
rs372166543
UCN2 ; COL7A1
0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 2
rs1057517724
COL7A1
1.000 0.080 3 48576771 missense variant C/G snv 1
rs1064797078
COL7A1
1.000 0.080 3 48595159 start lost T/C snv 1
rs1064797079
COL7A1
1.000 0.080 3 48588988 stop gained -/TCAG delins 1
rs1064797080
COL7A1
1.000 0.080 3 48575678 frameshift variant TTCG/- delins 1
rs1064797081
COL7A1
1.000 0.080 3 48566686 missense variant C/T snv 1
rs1064797082
COL7A1
1.000 0.080 3 48581288 frameshift variant G/- delins 1
rs121912830
COL7A1
1.000 0.080 3 48592613 stop gained G/A;T snv 7.2E-05 1
rs121912849
COL7A1
1.000 0.080 3 48575236 missense variant G/A;C snv 8.0E-06; 4.0E-06 1
rs121912852
COL7A1
1.000 0.080 3 48570304 stop gained G/A snv 8.0E-06 1
rs121912853
COL7A1
1.000 0.080 3 48566719 stop gained C/A;T snv 1.2E-05 1
rs1439299333
COL7A1 ; MIR711
1.000 0.080 3 48580908 missense variant C/T snv 4.0E-06 1
rs1559423385
COL7A1
1.000 0.080 3 48587423 stop gained G/A snv 1