Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518856
rs1057518856
PKD1
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1383657728
rs1383657728
PKD1 ; MIR6511B1
3 0.882 0.200 16 2108290 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.700 0
dbSNP: rs138780791
rs138780791
VHL
1 1.000 0.080 3 10149952 missense variant G/A snv 6.0E-05 1.3E-04 0.010 1.000 1 2007 2007