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: rs199476097
rs199476097
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090468 stop gained A/T snv 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0
dbSNP: rs1567192790
rs1567192790
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108700 frameshift variant ACCACGTCCACCTCCGGCTCCCGGCAGG/- delins 0.700 0
dbSNP: rs1555459084
rs1555459084
PKD1
1 1.000 0.120 16 2118095 frameshift variant AG/- del 0.700 0
dbSNP: rs1567210080
rs1567210080
PKD1
1 1.000 0.120 16 2114345 frameshift variant AG/- del 0.700 0
dbSNP: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs1555452400
rs1555452400
PKD1
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555446033
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs1555447057
rs1555447057
PKD1 ; LOC105371049
1 1.000 0.120 16 2093973 frameshift variant C/- delins 0.700 0
dbSNP: rs1555457482
rs1555457482
PKD1
1 1.000 0.120 16 2113285 frameshift variant C/- del 0.700 0
dbSNP: rs1567153758
rs1567153758
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092079 frameshift variant C/- delins 0.700 0
dbSNP: rs1567202350
rs1567202350
PKD1
1 1.000 0.120 16 2111317 frameshift variant C/- delins 0.700 0
dbSNP: rs1060499704
rs1060499704
PKD1
1 1.000 0.120 16 2100396 missense variant C/A 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: rs762003393
rs762003393
PKD1
1 1.000 0.120 16 2105867 stop gained C/A;G;T snv 4.3E-06 0.700 0
dbSNP: rs79000340
rs79000340
PKD1 ; LOC105371049
1 1.000 0.120 16 2093954 missense variant C/A;G;T snv 9.8E-06; 4.9E-06; 2.2E-03 0.700 0
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: 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: 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: rs1218054241
rs1218054241
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090776 stop gained C/A;T snv 4.1E-06 0.700 0
dbSNP: rs1282205691
rs1282205691
PKD1
1 1.000 0.120 16 2118717 missense variant C/A;T snv 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: 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: rs1266492292
rs1266492292
PKD1
1 1.000 0.120 16 2113185 missense variant C/G snv 8.4E-06 0.700 0