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: rs1554198717
rs1554198717
PKHD1
1 1.000 0.120 6 52025393 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1554200780
rs1554200780
PKHD1
1 1.000 0.120 6 52028253 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1554271235
rs1554271235
PKHD1
1 1.000 0.120 6 51847972 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1555444468
rs1555444468
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090336 inframe deletion TCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs376987651
rs376987651
PKHD1
1 1.000 0.120 6 52084933 start lost T/C snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1045675831
rs1045675831
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2089927 stop gained G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs199568593
rs199568593
PKHD1
1 1.000 0.120 6 52046089 missense variant A/G snv 8.0E-05 2.1E-05 0.700 1.000 5 2014 2018
dbSNP: rs753307105
rs753307105
PKHD1
1 1.000 0.120 6 52025518 missense variant C/T snv 4.0E-05 0.700 1.000 2 2014 2016
dbSNP: rs1037991711
rs1037991711
PKHD1
1 1.000 0.120 6 52069498 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1222094213
rs1222094213
PKD1
1 1.000 0.120 16 2104564 stop gained G/A;C snv 5.9E-06 0.700 1.000 1 2014 2014
dbSNP: rs1334913120
rs1334913120
PKHD1
1 1.000 0.120 6 51934324 splice acceptor variant T/- del 0.700 1.000 1 2014 2014
dbSNP: rs1343246818
rs1343246818
PKHD1
1 1.000 0.120 6 51748092 missense variant T/C snv 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs1554194511
rs1554194511
PKHD1
1 1.000 0.120 6 52017562 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1554194574
rs1554194574
PKHD1
1 1.000 0.120 6 52017599 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs201105958
rs201105958
PKHD1
1 1.000 0.120 6 52017512 missense variant G/A snv 1.7E-04 9.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs758352210
rs758352210
PKHD1
1 1.000 0.120 6 52050220 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs766551411
rs766551411
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090802 stop gained G/A;C snv 4.1E-06; 4.1E-06 0.700 1.000 1 2014 2014
dbSNP: rs794727759
rs794727759
PKHD1
1 1.000 0.120 6 51791265 missense variant A/T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs144193508
rs144193508
PKHD1
1 1.000 0.120 6 51619425 stop gained G/A snv 2.4E-05 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs141103838
rs141103838
PKHD1
1 1.000 0.120 6 52024676 missense variant C/T snv 7.4E-04 5.6E-04 0.700 1.000 3 2010 2016
dbSNP: rs750730042
rs750730042
PKHD1
1 1.000 0.120 6 52058438 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs1554183235
rs1554183235
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659270 frameshift variant T/- delins 0.700 1.000 2 2010 2014
dbSNP: rs1554289495
rs1554289495
PKHD1
1 1.000 0.120 6 51885960 frameshift variant A/- delins 0.700 1.000 2 2010 2010
dbSNP: rs398124495
rs398124495
PKHD1
1 1.000 0.120 6 51791269 missense variant A/G snv 2.0E-05 1.0E-04 0.800 1.000 2 2010 2014
dbSNP: rs765390756
rs765390756
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659171 frameshift variant G/- delins 0.700 1.000 2 2010 2016