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: 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: 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: 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: 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: rs1485161784
rs1485161784
PKHD1
1 1.000 0.120 6 51772701 splice donor variant C/T snv 8.1E-06 0.700 1.000 3 2004 2010
dbSNP: rs398124478
rs398124478
PKHD1
1 1.000 0.120 6 52048558 stop gained G/A;C snv 4.0E-05 0.700 1.000 3 2005 2005
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: rs398124503
rs398124503
PKHD1
1 1.000 0.120 6 52062655 stop gained G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2003 2015
dbSNP: rs747322128
rs747322128
PKHD1
1 1.000 0.120 6 51791359 missense variant C/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2005 2017
dbSNP: rs752327566
rs752327566
PKHD1
1 1.000 0.120 6 52079899 splice donor variant C/A snv 1.6E-05 2.1E-05 0.700 1.000 3 2003 2010
dbSNP: rs754392766
rs754392766
PKHD1
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 1.000 3 2004 2010
dbSNP: rs770522674
rs770522674
PKHD1
1 1.000 0.120 6 52022858 stop gained G/A snv 7.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs771623148
rs771623148
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659674 frameshift variant A/-;AA delins 4.0E-06 0.700 1.000 3 2004 2010
dbSNP: rs786204588
rs786204588
PKHD1
1 1.000 0.120 6 52069521 frameshift variant CATT/- del 0.700 1.000 3 2002 2010
dbSNP: rs786204696
rs786204696
PKHD1
1 1.000 0.120 6 52054122 missense variant A/T snv 0.700 1.000 3 2005 2015
dbSNP: rs1057516345
rs1057516345
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659417 stop gained G/C snv 4.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs1405067373
rs1405067373
PKHD1
1 1.000 0.120 6 51911906 frameshift variant A/- delins 4.0E-06 0.700 1.000 2 2003 2014