Gene: PKHD1 ×
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: 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: 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 16 2002 2015
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
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: rs1210846081
rs1210846081
PKHD1
1 1.000 0.120 6 51959953 missense variant T/C snv 0.800 1.000 13 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: 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 12 2002 2015
dbSNP: rs777999875
rs777999875
PKHD1
1 1.000 0.120 6 52017497 missense variant T/C snv 1.6E-05 0.800 1.000 12 2002 2015
dbSNP: rs1554218666
rs1554218666
PKHD1
1 1.000 0.120 6 51748246 missense variant G/A snv 0.800 1.000 11 2002 2016
dbSNP: rs137852945
rs137852945
PKHD1
1 1.000 0.120 6 51748563 missense variant G/A snv 0.800 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: rs28937907
rs28937907
PKHD1
1 1.000 0.120 6 52024819 missense variant G/A snv 0.800 1.000 10 2002 2015
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: 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: rs199531851
rs199531851
PKHD1
1 1.000 0.120 6 52046182 missense variant G/A snv 5.2E-05 4.2E-05 0.800 1.000 9 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: 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: 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: rs748540413
rs748540413
PKHD1
1 1.000 0.120 6 52026063 missense variant A/C snv 1.6E-05 1.4E-05 0.800 1.000 4 2002 2018
dbSNP: rs750730042
rs750730042
PKHD1
1 1.000 0.120 6 52058438 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs398124495
rs398124495
PKHD1
1 1.000 0.120 6 51791269 missense variant A/G snv 2.0E-05 1.0E-04 0.800 1.000 2 2010 2014
dbSNP: rs180675584
rs180675584
PKHD1
1 1.000 0.120 6 51934319 missense variant C/T snv 4.0E-05 5.6E-05 0.800 0
dbSNP: rs786204688
rs786204688
PKHD1
1 1.000 0.120 6 51748297 stop gained G/A snv 7.0E-06 0.710 1.000 3 2003 2013
dbSNP: rs1197981811
rs1197981811
PKHD1
1 1.000 0.120 6 52025059 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 2002 2015
dbSNP: rs1210348558
rs1210348558
PKHD1
1 1.000 0.120 6 51934238 missense variant A/G snv 4.0E-06 0.700 1.000 10 2002 2015