Disease: Weber-Cockayne Syndrome
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
rs61027685
KRT14
0.882 0.080 17 41586438 missense variant C/A;G;T snv 3
rs61222761
KRT5
0.925 0.080 12 52519824 missense variant T/A snv 2
rs61263401
KRT14
0.925 0.080 17 41586480 missense variant T/C snv 2