Gene: PKHD1 ×
Source: CLINVAR ×
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: 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 16 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 13 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 7 1975 2016
dbSNP: rs745770404
rs745770404
PKHD1
2 0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 4 2002 2015
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: rs727504096
rs727504096
PKHD1
2 0.925 0.120 6 52079920 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2005 2016
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: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 1.000 1 2003 2003
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 12 2002 2016
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 11 2002 2016
dbSNP: rs398124484
rs398124484
PKHD1
1 1.000 0.120 6 52026048 frameshift variant GG/C delins 0.700 1.000 9 2002 2016
dbSNP: rs746838237
rs746838237
PKHD1
1 1.000 0.120 6 51959882 frameshift variant -/T delins 9.8E-05 0.700 1.000 9 2002 2016
dbSNP: rs142107837
rs142107837
PKHD1
1 1.000 0.120 6 52028349 missense variant C/T snv 8.0E-06 2.8E-05 0.800 1.000 8 2002 2015
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 7 2003 2014
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: rs1210846081
rs1210846081
PKHD1
1 1.000 0.120 6 51959953 missense variant T/C snv 0.800 1.000 5 2002 2015
dbSNP: rs146649803
rs146649803
PKHD1
1 1.000 0.120 6 51747897 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2005 2014
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: 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: rs886061616
rs886061616
PKHD1
1 1.000 0.120 6 51847814 missense variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 5 2004 2010
dbSNP: rs1057517158
rs1057517158
PKHD1
1 1.000 0.120 6 52050172 missense variant G/A snv 4.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
1 1.000 0.120 6 51648115 stop gained G/A;T snv 4.0E-06 7.0E-06 0.700 1.000 4 2004 2016
dbSNP: rs201082169
rs201082169
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659952 stop gained G/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 4 2002 2016
dbSNP: rs780182068
rs780182068
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659361 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 2003 2014
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