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: rs137852948
rs137852948
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659468 missense variant A/G snv 2.8E-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: rs1554183496
rs1554183496
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659621 missense variant T/A snv 0.700 1.000 10 2002 2015
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: 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: 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: 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: rs1554183235
rs1554183235
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659270 frameshift variant T/- delins 0.700 1.000 2 2010 2014
dbSNP: rs765390756
rs765390756
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659171 frameshift variant G/- delins 0.700 1.000 2 2010 2016
dbSNP: rs770461067
rs770461067
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659489 frameshift variant A/- del 1.6E-05 2.8E-05 0.700 1.000 2 2010 2016
dbSNP: rs1057517047
rs1057517047
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659153 frameshift variant TA/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1057516652
rs1057516652
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659300 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516835
rs1057516835
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659708 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517249
rs1057517249
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659926 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1057517326
rs1057517326
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659664 frameshift variant -/C delins 0.700 0
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: rs1554174796
rs1554174796
PKHD1 ; LOC105375087
1 1.000 0.120 6 51648099 frameshift variant A/- del 0.700 0
dbSNP: rs1554174903
rs1554174903
PKHD1 ; LOC105375087
1 1.000 0.120 6 51648120 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554176343
rs1554176343
PKHD1 ; LOC105375087
1 1.000 0.120 6 51649119 frameshift variant G/- delins 0.700 0
dbSNP: rs1554176517
rs1554176517
PKHD1 ; LOC105375087
1 1.000 0.120 6 51649182 frameshift variant AT/- delins 0.700 0
dbSNP: rs1554183012
rs1554183012
PKHD1 ; LOC105375087
1 1.000 0.120 6 51658976 frameshift variant GAGT/- delins 0.700 0
dbSNP: rs1554183204
rs1554183204
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659232 stop gained TA/- delins 0.700 0
dbSNP: rs1554183240
rs1554183240
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659274 frameshift variant T/- delins 0.700 0