Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1057518897
PKD1
0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 3
rs148812376
PKD1
0.882 0.120 16 2099955 missense variant G/A snv 1.7E-04 3.2E-04 3
rs58598099
PKD1
0.882 0.200 16 2116917 missense variant A/G snv 3
rs886040959
MIR1225 ; LOC105371049 ; PKD1
1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 2
rs1286585831
PKD1
1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 2
rs1555448106
PKD1
1.000 0.120 16 2097160 frameshift variant A/- del 2
rs1555450475
PKD1
1.000 0.120 16 2102583 frameshift variant -/G delins 2
rs1555452400
PKD1
1.000 0.120 16 2105412 frameshift variant AT/- delins 2
rs1555454915
PKD1
1.000 0.120 16 2109358 frameshift variant A/- del 2
rs1555458413
PKD1
0.925 0.120 16 2116010 missense variant G/A snv 2
rs1616940
PKD1
0.925 0.120 16 2114843 missense variant A/G;T snv 2
rs199476100
PKD1
0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 2
rs780009030
PKD1
1.000 0.120 16 2097376 stop gained C/A;T snv 4.1E-06 1.4E-05 2
rs1057516041
PKD1 ; LOC105371049
0.925 0.120 16 2094127 stop gained C/A;T snv 9.4E-06 2
rs777460677
PKD1 ; LOC105371049
0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 2
rs1555444249
PKD1 ; LOC105371049 ; MIR1225
1.000 0.120 16 2090140 frameshift variant T/- del 2
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
1.000 0.120 16 2092144 frameshift variant C/- delins 2
rs199476095
PKD1 ; MIR1225 ; LOC105371049 ; TSC2
0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06 2
rs140869992
PKD1 ; MIR6511B1
1.000 0.120 16 2108569 missense variant G/A;T snv 1.1E-02 2
rs1282668884
LOC105371049 ; MIR1225 ; PKD1
1.000 0.120 16 2090191 missense variant G/A snv 1
rs142768096
LOC105371049 ; MIR1225 ; PKD1
1.000 0.120 16 2090717 missense variant C/A;T snv 6.1E-05; 1.2E-04 1
rs1567153758
LOC105371049 ; MIR1225 ; PKD1
1.000 0.120 16 2092079 frameshift variant C/- delins 1
rs199476094
LOC105371049 ; MIR1225 ; PKD1
1.000 0.120 16 2090688 stop gained G/A snv 1
rs199476097
LOC105371049 ; MIR1225 ; PKD1
1.000 0.120 16 2090468 stop gained A/T snv 1