Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs794728137
DSP
0.807 0.120 6 7565507 frameshift variant -/G delins 6
rs606231295
DSP
0.925 0.120 6 7570553 missense variant C/T snv 2