Disease: Junctional Epidermolysis Bullosa
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80356682
LAMB3
0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 7
rs121912771
COL17A1
0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 3
rs1181742615
LAMA3
0.925 0.080 18 23915298 stop gained C/G;T snv 4.0E-06; 8.0E-06 2
rs121912482
LAMB3
0.925 0.080 1 209633070 missense variant C/T snv 7.0E-06 2
rs121912773
COL17A1
0.925 0.080 10 104053072 missense variant C/T snv 2
rs121912774
COL17A1
0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06 2