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: 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: 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: rs746471701
rs746471701
PKHD1
1 1.000 0.120 6 51632706 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2005 2010
dbSNP: rs779050294
rs779050294
PKHD1
1 1.000 0.120 6 52055649 stop gained G/A snv 8.0E-06 2.8E-05 0.700 1.000 2 2005 2015
dbSNP: rs794727566
rs794727566
PKHD1
1 1.000 0.120 6 52024750 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs868673401
rs868673401
PKHD1
1 1.000 0.120 6 52035590 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs1057516445
rs1057516445
PKHD1
1 1.000 0.120 6 51747933 stop gained G/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1057516577
rs1057516577
PKHD1
1 1.000 0.120 6 51747898 stop gained G/A snv 8.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057524563
rs1057524563
PKHD1
1 1.000 0.120 6 51746721 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1554212326
rs1554212326
PKHD1
1 1.000 0.120 6 52050255 frameshift variant -/T delins 0.700 1.000 1 2005 2005
dbSNP: rs1554220431
rs1554220431
PKHD1
1 1.000 0.120 6 52065051 splice acceptor variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1554221478
rs1554221478
PKHD1
1 1.000 0.120 6 51754928 inframe deletion CTA/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1561920869
rs1561920869
PKHD1
1 1.000 0.120 6 51934202 frameshift variant T/- del 0.700 1.000 1 2005 2005
dbSNP: rs398124475
rs398124475
PKHD1
1 1.000 0.120 6 51744510 stop gained A/C;G snv 2.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs773136605
rs773136605
PKHD1
1 1.000 0.120 6 52043102 missense variant C/G;T snv 2.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs797044713
rs797044713
PKHD1
1 1.000 0.120 6 52028187 frameshift variant -/G delins 4.0E-06 1.4E-05 0.700 1.000 1 2005 2005
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: 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: 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: 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: rs754392766
rs754392766
PKHD1
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 1.000 3 2004 2010
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: rs1057516263
rs1057516263
PKHD1
1 1.000 0.120 6 52025216 frameshift variant -/A delins 0.700 1.000 1 2004 2004
dbSNP: rs1554134080
rs1554134080
PKHD1
1 1.000 0.120 6 51912382 frameshift variant GATAGAGGTCTGTATCC/- del 0.700 1.000 1 2004 2004
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