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: rs369825780
rs369825780
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092181 stop gained G/A;C snv 1.8E-05 0.700 0
dbSNP: rs2549677
rs2549677
PKD1
1 1.000 0.120 16 2112360 missense variant A/G snv 7.2E-02 0.21 0.700 1.000 20 1996 2009
dbSNP: rs2432403
rs2432403
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106599 stop gained G/A snv 0.700 0
dbSNP: rs201780393
rs201780393
PKD1
1 1.000 0.120 16 2099931 missense variant C/T snv 1.8E-05 2.8E-05 0.700 1.000 20 1996 2009
dbSNP: rs201238819
rs201238819
PKD1
1 1.000 0.120 16 2104572 missense variant A/C;G;T snv 1.1E-03; 1.6E-04 0.700 1.000 20 1996 2009
dbSNP: rs200522524
rs200522524
PKD1
1 1.000 0.120 16 2102467 missense variant G/A;T snv 1.9E-05; 2.3E-04 0.700 0
dbSNP: rs200433577
rs200433577
PKD1 ; MIR6511B1
1 1.000 0.120 16 2107963 missense variant G/A snv 3.3E-05 3.5E-05 0.700 0
dbSNP: rs200037070
rs200037070
PKD1
1 1.000 0.120 16 2106158 missense variant G/A snv 1.6E-03 1.4E-03 0.700 0
dbSNP: rs199476102
rs199476102
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090309 stop gained C/T snv 0.700 0
dbSNP: rs199476101
rs199476101
PKD1
1 1.000 0.120 16 2109403 stop gained G/A snv 0.700 0
dbSNP: rs199476100
rs199476100
PKD1
2 0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 0.810 1.000 21 1996 2009
dbSNP: rs199476099
rs199476099
PKD1
1 1.000 0.120 16 2118021 missense variant C/A;T snv 2.5E-03; 1.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs199476098
rs199476098
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091861 stop gained G/T snv 4.2E-06 0.700 0
dbSNP: rs199476097
rs199476097
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090468 stop gained A/T snv 0.700 0
dbSNP: rs199476096
rs199476096
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091806 stop gained G/A snv 0.700 0
dbSNP: rs199476095
rs199476095
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
2 0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06 0.700 0
dbSNP: rs199476094
rs199476094
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090688 stop gained G/A snv 0.700 0
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2003 2003
dbSNP: rs1616940
rs1616940
PKD1
2 0.925 0.120 16 2114843 missense variant A/G;T snv 0.700 0
dbSNP: rs1567219111
rs1567219111
PKD1
1 1.000 0.120 16 2118801 stop gained C/T snv 0.700 0
dbSNP: rs1567216323
rs1567216323
PKD1
1 1.000 0.120 16 2117518 frameshift variant CACGGCGGGA/GT delins 0.700 0
dbSNP: rs1567210080
rs1567210080
PKD1
1 1.000 0.120 16 2114345 frameshift variant AG/- del 0.700 0
dbSNP: rs1567206904
rs1567206904
PKD1
1 1.000 0.120 16 2112878 frameshift variant A/GGG delins 0.700 0
dbSNP: rs1567204631
rs1567204631
PKD1
1 1.000 0.120 16 2111872 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1567202350
rs1567202350
PKD1
1 1.000 0.120 16 2111317 frameshift variant C/- delins 0.700 0