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: rs1554144359
rs1554144359
PKHD1
1 1.000 0.120 6 51934247 missense variant T/C snv 0.700 1.000 10 2002 2015
dbSNP: rs1554183496
rs1554183496
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659621 missense variant T/A snv 0.700 1.000 10 2002 2015
dbSNP: rs1554197025
rs1554197025
PKHD1
1 1.000 0.120 6 52022839 missense variant G/A snv 0.700 1.000 10 2002 2015
dbSNP: rs1554220680
rs1554220680
PKHD1
1 1.000 0.120 6 51753266 missense variant T/C snv 0.700 1.000 10 2002 2015
dbSNP: rs1554243589
rs1554243589
PKHD1
1 1.000 0.120 6 51791283 missense variant A/C snv 0.700 1.000 10 2002 2015
dbSNP: rs1554263080
rs1554263080
PKHD1
1 1.000 0.120 6 51830882 missense variant C/A snv 0.700 1.000 10 2002 2015
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: 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: rs777183511
rs777183511
PKHD1
1 1.000 0.120 6 52050167 missense variant T/C;G snv 3.6E-05; 1.2E-05 0.700 1.000 10 2002 2015
dbSNP: rs778329699
rs778329699
PKHD1
1 1.000 0.120 6 52062660 missense variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 10 2002 2015
dbSNP: rs1412045164
rs1412045164
PKHD1
1 1.000 0.120 6 52010310 missense variant T/C snv 3.5E-05 0.700 1.000 9 2002 2015
dbSNP: rs1421520936
rs1421520936
PKHD1
1 1.000 0.120 6 52025353 missense variant G/A snv 4.0E-06 0.700 1.000 9 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: rs367678592
rs367678592
PKHD1
1 1.000 0.120 6 51748470 missense variant T/C snv 1.2E-05 0.700 1.000 9 2002 2015
dbSNP: rs370277502
rs370277502
PKHD1
1 1.000 0.120 6 52082399 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 9 2002 2015
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: rs749454235
rs749454235
PKHD1
1 1.000 0.120 6 52071006 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 9 2002 2015
dbSNP: rs755654557
rs755654557
PKHD1
1 1.000 0.120 6 52084884 missense variant G/A snv 0.700 1.000 9 2002 2015
dbSNP: rs759687904
rs759687904
PKHD1
1 1.000 0.120 6 51909295 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 2002 2015
dbSNP: rs761786260
rs761786260
PKHD1
1 1.000 0.120 6 51934206 missense variant C/T snv 4.0E-06 0.700 1.000 9 2002 2015
dbSNP: rs775254013
rs775254013
PKHD1
1 1.000 0.120 6 52069478 missense variant A/G snv 4.0E-06 0.700 1.000 9 2002 2015
dbSNP: rs776845008
rs776845008
PKHD1
1 1.000 0.120 6 52058426 missense variant C/A;T snv 8.0E-06 0.700 1.000 9 2002 2015