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: rs148932323
rs148932323
PKHD1
1 1.000 0.120 6 51746853 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs147222255
rs147222255
PKHD1
1 1.000 0.120 6 51791331 missense variant C/G;T snv 2.7E-03; 1.2E-05 0.700 0
dbSNP: rs141103838
rs141103838
PKHD1
1 1.000 0.120 6 52024676 missense variant C/T snv 7.4E-04 5.6E-04 0.700 1.000 3 2010 2016
dbSNP: rs149522482
rs149522482
PKHD1
1 1.000 0.120 6 52071021 missense variant C/T snv 7.1E-04 1.9E-03 0.700 0
dbSNP: rs137852949
rs137852949
PKHD1
2 0.925 0.240 6 52058349 stop gained G/A;C snv 6.6E-04; 4.0E-06 0.700 1.000 3 2003 2010
dbSNP: rs746972457
rs746972457
PKHD1
2 0.925 0.240 6 52026044 frameshift variant G/- delins 5.1E-04 2.2E-04 0.700 1.000 1 2010 2010
dbSNP: rs201881567
rs201881567
PKHD1
1 1.000 0.120 6 51883179 missense variant A/C;G snv 5.0E-04; 2.4E-05 0.700 1.000 10 2002 2015
dbSNP: rs200179145
rs200179145
PKHD1
1 1.000 0.120 6 51903601 missense variant A/G;T snv 4.0E-06; 4.6E-04 0.800 1.000 13 2002 2016
dbSNP: rs137852944
rs137852944
PKHD1
5 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.810 1.000 19 2002 2015
dbSNP: rs149798764
rs149798764
PKHD1
1 1.000 0.120 6 51744505 missense variant A/G snv 3.3E-04 2.6E-04 0.800 1.000 9 2002 2015
dbSNP: rs201105958
rs201105958
PKHD1
1 1.000 0.120 6 52017512 missense variant G/A snv 1.7E-04 9.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs751084512
rs751084512
PKHD1
1 1.000 0.120 6 51903686 missense variant T/A snv 1.6E-04 1.0E-04 0.800 1.000 10 2002 2015
dbSNP: rs200391019
rs200391019
PKHD1
2 0.925 0.120 6 52024940 missense variant G/A snv 1.5E-04 6.3E-05 0.800 1.000 8 1975 2016
dbSNP: rs142146981
rs142146981
PKHD1
1 1.000 0.120 6 51748375 missense variant T/C snv 1.4E-04 1.3E-04 0.700 1.000 10 2002 2015
dbSNP: rs369925690
rs369925690
PKHD1
2 0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04 0.800 1.000 14 2002 2015
dbSNP: rs199568593
rs199568593
PKHD1
1 1.000 0.120 6 52046089 missense variant A/G snv 8.0E-05 2.1E-05 0.700 1.000 5 2014 2018
dbSNP: rs146680689
rs146680689
PKHD1
1 1.000 0.120 6 51619437 missense variant G/A snv 7.2E-05 7.0E-05 0.700 1.000 10 2002 2015
dbSNP: rs137852950
rs137852950
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659714 missense variant A/C snv 7.2E-05 8.4E-05 0.800 1.000 10 2002 2015
dbSNP: rs748863662
rs748863662
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659724 missense variant T/C snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs398124502
rs398124502
PKHD1
1 1.000 0.120 6 51747927 frameshift variant T/- del 7.2E-05 4.9E-05 0.700 1.000 5 2003 2014
dbSNP: rs148300854
rs148300854
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659382 stop gained C/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs398124483
rs398124483
PKHD1
1 1.000 0.120 6 52079937 frameshift variant C/- del 5.6E-05 2.8E-05 0.700 1.000 3 2004 2005
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659682 missense variant G/A snv 5.2E-05 2.1E-05 0.800 1.000 6 2003 2016
dbSNP: rs200511261
rs200511261
PKHD1
1 1.000 0.120 6 51748086 missense variant A/G snv 5.2E-05 4.9E-05 0.800 1.000 8 2003 2014
dbSNP: rs760222236
rs760222236
PKHD1
1 1.000 0.120 6 51753281 missense variant A/G snv 5.2E-05 7.0E-05 0.800 1.000 16 2002 2016