Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs58072617
KRT5
0.790 0.120 12 52517702 missense variant A/G;T snv 7
rs59190510
KRT5
0.851 0.080 12 52516647 stop gained C/A;T snv 4
rs58762773
KRT14
0.882 0.080 17 41583245 missense variant C/G;T snv 4.0E-06 3
rs60586163
KRT5
0.882 0.080 12 52519137 missense variant G/A;C;T snv 4.0E-06 3