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: 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: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G 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: rs1555458413
rs1555458413
PKD1
2 0.925 0.120 16 2116010 missense variant G/A snv 0.800 1.000 20 1996 2009
dbSNP: rs1057516041
rs1057516041
PKD1 ; LOC105371049
2 0.925 0.120 16 2094127 stop gained C/A;T snv 9.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518897
rs1057518897
PKD1
3 0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1616940
rs1616940
PKD1
2 0.925 0.120 16 2114843 missense variant A/G;T 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: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090191 missense variant G/A snv 0.700 1.000 20 1996 2009
dbSNP: rs1358566538
rs1358566538
PKD1
1 1.000 0.120 16 2100552 missense variant C/T snv 8.1E-06 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: 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: rs140791671
rs140791671
PKD1
1 1.000 0.120 16 2100044 missense variant C/T snv 4.6E-05 1.9E-04 0.700 1.000 20 1996 2009
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: rs1416373452
rs1416373452
PKD1 ; LOC105371049
1 1.000 0.120 16 2093664 missense variant C/G snv 4.2E-06 0.700 1.000 20 1996 2009
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: 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: 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: rs1456510041
rs1456510041
PKD1
1 1.000 0.120 16 2103755 missense variant C/T snv 8.1E-06 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: rs151257298
rs151257298
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106587 missense variant G/A snv 0.700 1.000 20 1996 2009
dbSNP: rs1555446576
rs1555446576
PKD1 ; LOC105371049
1 1.000 0.120 16 2092954 missense variant C/T snv 0.800 1.000 20 1996 2009
dbSNP: rs1555450487
rs1555450487
PKD1
1 1.000 0.120 16 2102604 missense variant A/G snv 0.700 1.000 20 1996 2009