Gene: PKD1 ×
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: rs1057518783
rs1057518783
PKD1
1 16 2110081 stop gained G/A snv 0.700 0
dbSNP: rs1057518899
rs1057518899
PKD1
2 16 2111647 stop gained G/A snv 0.700 0
dbSNP: rs1057518959
rs1057518959
PKD1 ; MIR1225 ; LOC105371049
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0
dbSNP: rs1286585831
rs1286585831
PKD1
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1555444249
rs1555444249
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555446033
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555450475
rs1555450475
PKD1
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555452400
rs1555452400
PKD1
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555452653
rs1555452653
PKD1
1 16 2105909 frameshift variant -/C delins 0.700 0
dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1555454847
rs1555454847
PKD1
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 0.700 0
dbSNP: rs1555454915
rs1555454915
PKD1
2 1.000 0.120 16 2109358 frameshift variant A/- del 0.700 0
dbSNP: rs1555459345
rs1555459345
PKD1
3 1.000 0.040 16 2119114 missense variant A/G snv 0.700 0
dbSNP: rs1567155145
rs1567155145
PKD1 ; LOC105371049
1 16 2092534 stop gained G/A snv 0.700 0
dbSNP: rs1567159074
rs1567159074
PKD1 ; LOC105371049
1 16 2094014 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1567202189
rs1567202189
PKD1
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs566014072
rs566014072
PKD1
3 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs747483368
rs747483368
PKD1
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs777269070
rs777269070
PKD1 ; MIR1225 ; LOC105371049
1 16 2090777 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs780009030
rs780009030
PKD1
2 1.000 0.120 16 2097376 stop gained C/A;T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0