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: rs1020621286
rs1020621286
PKHD1
1 1.000 0.120 6 51772791 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs1037991711
rs1037991711
PKHD1
1 1.000 0.120 6 52069498 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1045675831
rs1045675831
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2089927 stop gained G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516201
rs1057516201
PKHD1
1 1.000 0.120 6 51748665 missense variant C/G snv 0.700 0
dbSNP: rs1057516221
rs1057516221
PKHD1
1 1.000 0.120 6 51887158 stop gained G/A snv 0.700 0
dbSNP: rs1057516263
rs1057516263
PKHD1
1 1.000 0.120 6 52025216 frameshift variant -/A delins 0.700 1.000 1 2004 2004
dbSNP: rs1057516283
rs1057516283
PKHD1
1 1.000 0.120 6 52033167 splice acceptor variant T/- del 8.0E-06 0.700 0
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: rs1057516382
rs1057516382
PKHD1
1 1.000 0.120 6 52025253 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516407
rs1057516407
PKHD1
1 1.000 0.120 6 51960028 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057516413
rs1057516413
PKHD1
1 1.000 0.120 6 51748142 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1057516441
rs1057516441
PKHD1
1 1.000 0.120 6 51903683 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516445
rs1057516445
PKHD1
1 1.000 0.120 6 51747933 stop gained G/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1057516490
rs1057516490
PKHD1
1 1.000 0.120 6 51847832 stop gained G/A snv 0.700 0
dbSNP: rs1057516562
rs1057516562
PKHD1
1 1.000 0.120 6 52044952 splice donor variant ATTCACTCTCACC/- delins 0.700 0
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: rs1057516588
rs1057516588
PKHD1
1 1.000 0.120 6 51883092 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1057516594
rs1057516594
PKHD1
1 1.000 0.120 6 52025689 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516596
rs1057516596
PKHD1
1 1.000 0.120 6 51883173 frameshift variant C/- del 0.700 0
dbSNP: rs1057516607
rs1057516607
PKHD1
1 1.000 0.120 6 51855911 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516608
rs1057516608
PKHD1
1 1.000 0.120 6 52050244 stop gained G/T snv 0.700 0
dbSNP: rs1057516626
rs1057516626
PKHD1
1 1.000 0.120 6 52024987 frameshift variant TA/- delins 0.700 0
dbSNP: rs1057516652
rs1057516652
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659300 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516690
rs1057516690
PKHD1
1 1.000 0.120 6 51855938 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516691
rs1057516691
PKHD1
1 1.000 0.120 6 52025236 frameshift variant G/- delins 0.700 0