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: rs9936785
rs9936785
PKD1
1 1.000 0.120 16 2105425 missense variant T/C snv 4.4E-02 0.19 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: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs886038369
rs886038369
PKD1 ; MIR3180-5
1 1.000 0.120 16 2135508 missense variant G/A snv 6.3E-04 0.700 1.000 20 1996 2009
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: rs781492044
rs781492044
PKD1 ; LOC105371049
1 1.000 0.120 16 2093828 missense variant C/T snv 2.9E-05 3.5E-05 0.700 1.000 20 1996 2009
dbSNP: rs781263445
rs781263445
PKD1
1 1.000 0.120 16 2097971 missense variant G/A snv 4.4E-06 1.4E-05 0.700 1.000 20 1996 2009
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: rs778028644
rs778028644
PKD1
1 1.000 0.120 16 2109736 missense variant C/T snv 3.3E-05 5.6E-05 0.700 1.000 20 1996 2009
dbSNP: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs776463508
rs776463508
PKD1
1 1.000 0.120 16 2097890 missense variant G/A;C;T snv 2.8E-05; 9.7E-05; 4.1E-06 0.700 1.000 20 1996 2009
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: 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: rs755522953
rs755522953
PKD1
1 1.000 0.120 16 2103485 missense variant C/T snv 5.5E-05 2.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs752447240
rs752447240
PKD1
1 1.000 0.120 16 2103390 missense variant G/C snv 1.3E-05 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: 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: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.700 0
dbSNP: rs573566419
rs573566419
PKD1
1 1.000 0.120 16 2111671 missense variant C/T snv 6.5E-05 2.8E-05 0.700 1.000 20 1996 2009
dbSNP: rs539793378
rs539793378
PKD1
1 1.000 0.120 16 2108868 stop gained G/A;T snv 8.8E-05 0.700 0
dbSNP: rs538769374
rs538769374
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106665 missense variant G/A snv 8.4E-05 2.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs534112936
rs534112936
PKD1
1 1.000 0.120 16 2103652 missense variant G/A snv 6.5E-05 4.9E-05 0.700 1.000 20 1996 2009
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: rs373952574
rs373952574
PKD1
1 1.000 0.120 16 2102629 missense variant T/C snv 1.2E-05 7.0E-06 0.700 1.000 20 1996 2009
dbSNP: rs371283948
rs371283948
PKD1
1 1.000 0.120 16 2097912 missense variant C/T snv 8.1E-05 5.6E-05 0.700 1.000 20 1996 2009