Disease: Renal cyst
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs786204707
PKHD1
0.925 0.200 6 52043636 stop gained C/T snv 4
rs1057518952
PKHD1
1.000 0.080 6 52024728 frameshift variant -/C delins 3