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: 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: rs9925969
rs9925969
PKD1
1 1.000 0.120 16 2102386 missense variant A/G snv 0.16 0.25 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: rs9936785
rs9936785
PKD1
1 1.000 0.120 16 2105425 missense variant T/C snv 4.4E-02 0.19 0.700 0
dbSNP: rs140869992
rs140869992
PKD1 ; MIR6511B1
2 1.000 0.120 16 2108569 missense variant G/A;T snv 1.1E-02 0.700 1.000 20 1996 2009
dbSNP: rs149151043
rs149151043
PKD1
1 1.000 0.120 16 2103617 missense variant C/T snv 6.1E-03 6.3E-03 0.700 1.000 20 1996 2009
dbSNP: rs114251396
rs114251396
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2089813 missense variant G/A snv 3.7E-03 3.3E-03 0.700 0
dbSNP: rs143690392
rs143690392
PKD1
1 1.000 0.120 16 2111149 missense variant G/A snv 2.6E-03 3.2E-03 0.700 1.000 20 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: rs139971481
rs139971481
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108418 missense variant G/A snv 2.3E-03 2.2E-03 0.700 1.000 20 1996 2009
dbSNP: rs79000340
rs79000340
PKD1 ; LOC105371049
1 1.000 0.120 16 2093954 missense variant C/A;G;T snv 9.8E-06; 4.9E-06; 2.2E-03 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: rs141946034
rs141946034
PKD1 ; LOC105371049
1 1.000 0.120 16 2094179 missense variant G/C snv 1.3E-03 7.6E-04 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: rs139945204
rs139945204
PKD1
1 1.000 0.120 16 2100465 missense variant T/A snv 9.9E-04 1.2E-03 0.700 1.000 20 1996 2009
dbSNP: rs115538130
rs115538130
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090179 missense variant G/A;T snv 9.3E-04; 4.2E-06 0.700 0
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: rs374500158
rs374500158
PKD1
1 1.000 0.120 16 2105401 missense variant A/G snv 2.3E-04 2.8E-04 0.700 0
dbSNP: rs148812376
rs148812376
PKD1
3 0.882 0.120 16 2099955 missense variant G/A snv 1.7E-04 3.2E-04 0.700 1.000 3 2009 2016
dbSNP: rs142768096
rs142768096
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090717 missense variant C/A;T snv 6.1E-05; 1.2E-04 0.700 1.000 20 1996 2009
dbSNP: rs776463508
rs776463508
PKD1
1 1.000 0.120 16 2097890 missense variant G/A;C;T snv 2.8E-05; 9.7E-05; 4.1E-06 0.700 1.000 20 1996 2009
dbSNP: rs539793378
rs539793378
PKD1
1 1.000 0.120 16 2108868 stop gained G/A;T snv 8.8E-05 0.700 0
dbSNP: rs538769374
rs538769374
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106665 missense variant G/A snv 8.4E-05 2.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs371283948
rs371283948
PKD1
1 1.000 0.120 16 2097912 missense variant C/T snv 8.1E-05 5.6E-05 0.700 1.000 20 1996 2009
dbSNP: rs750780241
rs750780241
PKD1
1 1.000 0.120 16 2102889 stop gained G/A;C;T snv 7.6E-05 0.700 0