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: 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: rs1555444225
rs1555444225
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090125 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs1555444334
rs1555444334
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090196 splice acceptor variant T/A;G snv 0.700 0
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: 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: rs1555445192
rs1555445192
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091077 frameshift variant CAGGCTCCGAGCC/- delins 0.700 0
dbSNP: rs1325300747
rs1325300747
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091857 stop gained G/A;C snv 0.700 0
dbSNP: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs1555450424
rs1555450424
PKD1
1 1.000 0.120 16 2102506 stop gained GCC/T delins 0.700 0
dbSNP: rs1555451093
rs1555451093
PKD1
1 1.000 0.120 16 2103512 frameshift variant C/- delins 0.700 0
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: rs1555453360
rs1555453360
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106840 frameshift variant G/- delins 0.700 0
dbSNP: rs752114168
rs752114168
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106877 stop gained G/A;C snv 3.4E-05 1.4E-05 0.700 0
dbSNP: rs1555453872
rs1555453872
PKD1 ; MIR6511B1
1 1.000 0.120 16 2107947 frameshift variant -/CAGCCGC delins 0.700 0
dbSNP: rs1555454145
rs1555454145
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108335 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1555454411
rs1555454411
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108680 stop gained G/A snv 0.700 1.000 2 2001 2012
dbSNP: rs1555454512
rs1555454512
PKD1
1 1.000 0.120 16 2108860 stop gained G/A snv 0.700 0
dbSNP: rs1555454604
rs1555454604
PKD1
1 1.000 0.120 16 2108968 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs1555455998
rs1555455998
PKD1
1 1.000 0.120 16 2110706 frameshift variant G/- del 0.700 0
dbSNP: rs747483368
rs747483368
PKD1
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs1555458413
rs1555458413
PKD1
2 0.925 0.120 16 2116010 missense variant G/A snv 0.700 1.000 2 2007 2012
dbSNP: rs750798165
rs750798165
PKD1
1 1.000 0.120 16 2116856 missense variant T/A;C snv 0.700 1.000 3 2007 2012
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: rs146680689
rs146680689
PKHD1
1 1.000 0.120 6 51619437 missense variant G/A snv 7.2E-05 7.0E-05 0.700 1.000 10 2002 2015
dbSNP: rs1488844530
rs1488844530
PKHD1
1 1.000 0.120 6 51626996 splice donor variant C/A snv 4.0E-06 0.700 0