Disease: Polycystic liver disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852944
PKHD1
0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 5
rs747483368
PKD1
0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 3
rs137852949
PKHD1
0.925 0.240 6 52058349 stop gained G/A;C snv 6.6E-04; 4.0E-06 2
rs746972457
PKHD1
0.925 0.240 6 52026044 frameshift variant G/- delins 5.1E-04 2.2E-04 2