Disease: Autosomal Recessive Polycystic Kidney 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
rs786204707
PKHD1
0.925 0.200 6 52043636 stop gained C/T snv 4
rs747483368
PKD1
0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 3
rs181208607
PKHD1
1.000 0.120 6 51847966 stop gained G/T snv 2.0E-05 2.8E-05 2
rs754392766
PKHD1
1.000 0.120 6 52058355 stop gained G/A;C snv 2