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: rs1286585831
rs1286585831
PKD1
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1327414405
rs1327414405
PKD1 ; LOC105371049
1 1.000 0.120 16 2092500 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1377414968
rs1377414968
PKD1
1 1.000 0.120 16 2109801 stop gained G/A;C snv 4.1E-06 0.700 0
dbSNP: rs1383930225
rs1383930225
PKD1
1 1.000 0.120 16 2108919 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1401015526
rs1401015526
PKD1
1 1.000 0.120 16 2116855 stop gained G/T snv 0.700 0
dbSNP: rs1420757773
rs1420757773
PKD1
1 1.000 0.120 16 2099917 stop gained G/A;T snv 6.0E-06 0.700 0
dbSNP: rs1453883641
rs1453883641
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106459 stop gained G/A;T snv 0.700 0
dbSNP: rs1490043027
rs1490043027
PKD1
1 1.000 0.120 16 2105392 missense variant G/A snv 8.7E-06 0.700 0
dbSNP: rs1555444985
rs1555444985
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090781 stop gained G/A snv 0.700 0
dbSNP: rs1555445740
rs1555445740
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091865 missense variant C/T snv 0.700 0
dbSNP: rs1555446330
rs1555446330
PKD1 ; LOC105371049
1 1.000 0.120 16 2092491 missense variant C/T snv 0.700 0
dbSNP: rs1555450920
rs1555450920
PKD1
1 1.000 0.120 16 2103295 missense variant T/C snv 0.700 0
dbSNP: rs1555450968
rs1555450968
PKD1
1 1.000 0.120 16 2103353 stop gained G/A snv 0.700 0
dbSNP: rs1555453207
rs1555453207
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106619 missense variant G/A;T snv 0.700 0
dbSNP: rs1555454606
rs1555454606
PKD1
1 1.000 0.120 16 2108970 missense variant A/G snv 0.700 0
dbSNP: rs1555454739
rs1555454739
PKD1
1 1.000 0.120 16 2109136 stop gained G/A snv 0.700 0
dbSNP: rs1555456744
rs1555456744
PKD1
1 1.000 0.120 16 2111731 missense variant A/C snv 0.700 0
dbSNP: rs1567186165
rs1567186165
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106560 stop gained C/A snv 0.700 0
dbSNP: rs1567196052
rs1567196052
PKD1
1 1.000 0.120 16 2109540 stop gained G/C snv 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: rs1567219111
rs1567219111
PKD1
1 1.000 0.120 16 2118801 stop gained C/T snv 0.700 0
dbSNP: rs1616940
rs1616940
PKD1
2 0.925 0.120 16 2114843 missense variant A/G;T snv 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: 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: rs199476096
rs199476096
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091806 stop gained G/A snv 0.700 0