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: rs1555455797
rs1555455797
PKD1
1 1.000 0.120 16 2110458 frameshift variant G/- del 0.700 0
dbSNP: rs1555456661
rs1555456661
PKD1
1 1.000 0.120 16 2111663 frameshift variant -/G delins 0.700 0
dbSNP: rs1555456744
rs1555456744
PKD1
1 1.000 0.120 16 2111731 missense variant A/C snv 0.700 0
dbSNP: rs1555457482
rs1555457482
PKD1
1 1.000 0.120 16 2113285 frameshift variant C/- del 0.700 0
dbSNP: rs1555457807
rs1555457807
PKD1
1 1.000 0.120 16 2114391 frameshift variant -/GGCAG delins 0.700 0
dbSNP: rs1555459001
rs1555459001
PKD1
1 1.000 0.120 16 2117904 frameshift variant CACGAGCTCCA/- delins 0.700 0
dbSNP: rs1555459084
rs1555459084
PKD1
1 1.000 0.120 16 2118095 frameshift variant AG/- del 0.700 0
dbSNP: rs1567146946
rs1567146946
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090508 frameshift variant GGTAG/- delins 0.700 0
dbSNP: rs1567153758
rs1567153758
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092079 frameshift variant C/- delins 0.700 0
dbSNP: rs1567154953
rs1567154953
PKD1 ; LOC105371049
1 1.000 0.120 16 2092486 inframe deletion CACCTGCCGCAGCCG/- delins 0.700 0
dbSNP: rs1567165997
rs1567165997
PKD1
1 1.000 0.120 16 2097942 frameshift variant -/C delins 0.700 0
dbSNP: rs1567186165
rs1567186165
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106560 stop gained C/A snv 0.700 0
dbSNP: rs1567192790
rs1567192790
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108700 frameshift variant ACCACGTCCACCTCCGGCTCCCGGCAGG/- delins 0.700 0
dbSNP: rs1567196052
rs1567196052
PKD1
1 1.000 0.120 16 2109540 stop gained G/C snv 0.700 0
dbSNP: rs1567202350
rs1567202350
PKD1
1 1.000 0.120 16 2111317 frameshift variant C/- 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: rs1567206904
rs1567206904
PKD1
1 1.000 0.120 16 2112878 frameshift variant A/GGG delins 0.700 0
dbSNP: rs1567210080
rs1567210080
PKD1
1 1.000 0.120 16 2114345 frameshift variant AG/- del 0.700 0
dbSNP: rs1567216323
rs1567216323
PKD1
1 1.000 0.120 16 2117518 frameshift variant CACGGCGGGA/GT delins 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
dbSNP: rs199476097
rs199476097
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090468 stop gained A/T snv 0.700 0