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: rs199476098
rs199476098
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091861 stop gained G/T snv 4.2E-06 0.700 0
dbSNP: rs199476101
rs199476101
PKD1
1 1.000 0.120 16 2109403 stop gained G/A snv 0.700 0
dbSNP: rs199476102
rs199476102
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090309 stop gained C/T snv 0.700 0
dbSNP: rs200037070
rs200037070
PKD1
1 1.000 0.120 16 2106158 missense variant G/A snv 1.6E-03 1.4E-03 0.700 0
dbSNP: rs200433577
rs200433577
PKD1 ; MIR6511B1
1 1.000 0.120 16 2107963 missense variant G/A snv 3.3E-05 3.5E-05 0.700 0
dbSNP: rs200522524
rs200522524
PKD1
1 1.000 0.120 16 2102467 missense variant G/A;T snv 1.9E-05; 2.3E-04 0.700 0
dbSNP: rs2432403
rs2432403
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106599 stop gained G/A snv 0.700 0
dbSNP: rs369825780
rs369825780
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092181 stop gained G/A;C snv 1.8E-05 0.700 0
dbSNP: rs374500158
rs374500158
PKD1
1 1.000 0.120 16 2105401 missense variant A/G snv 2.3E-04 2.8E-04 0.700 0
dbSNP: rs539793378
rs539793378
PKD1
1 1.000 0.120 16 2108868 stop gained G/A;T snv 8.8E-05 0.700 0
dbSNP: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.700 0
dbSNP: rs745912756
rs745912756
PKD1 ; LOC105371049
1 1.000 0.120 16 2093032 stop gained G/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs750780241
rs750780241
PKD1
1 1.000 0.120 16 2102889 stop gained G/A;C;T snv 7.6E-05 0.700 0
dbSNP: rs752447240
rs752447240
PKD1
1 1.000 0.120 16 2103390 missense variant G/C snv 1.3E-05 0.700 0
dbSNP: rs758896945
rs758896945
PKD1
1 1.000 0.120 16 2106022 missense variant G/C snv 4.2E-06 7.0E-06 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: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 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: 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: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs9925969
rs9925969
PKD1
1 1.000 0.120 16 2102386 missense variant A/G snv 0.16 0.25 0.700 0
dbSNP: rs9936785
rs9936785
PKD1
1 1.000 0.120 16 2105425 missense variant T/C snv 4.4E-02 0.19 0.700 0
dbSNP: rs199476100
rs199476100
PKD1
2 0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 0.810 1.000 21 1996 2009
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090191 missense variant G/A snv 0.700 1.000 20 1996 2009
dbSNP: rs1358566538
rs1358566538
PKD1
1 1.000 0.120 16 2100552 missense variant C/T snv 8.1E-06 0.700 1.000 20 1996 2009