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: 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: 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: 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: 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: 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: 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
dbSNP: rs1555453210
rs1555453210
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106622 missense variant G/T snv 0.700 1.000 20 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: rs1555458892
rs1555458892
PKD1
1 1.000 0.120 16 2117568 missense variant A/G snv 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: 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: 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: 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: 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: rs1057516202
rs1057516202
PKD1
1 1.000 0.120 16 2100027 inframe deletion GCT/- del 0.700 0
dbSNP: rs1057516206
rs1057516206
PKD1
1 1.000 0.120 16 2111624 stop gained A/T snv 0.700 0
dbSNP: rs1060499699
rs1060499699
PKD1
1 1.000 0.120 16 2117579 missense variant G/T snv 0.700 0
dbSNP: rs1060499702
rs1060499702
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108743 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499704
rs1060499704
PKD1
1 1.000 0.120 16 2100396 missense variant C/A snv 0.700 0
dbSNP: rs1060499718
rs1060499718
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090418 frameshift variant CA/- delins 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0