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: rs1553925470
rs1553925470
PKD2
2 0.925 0.120 4 88038502 splice region variant AAGT/- delins 0.700 0
dbSNP: rs1553924173
rs1553924173
PKD2
1 1.000 0.120 4 88019532 frameshift variant C/- del 0.700 0
dbSNP: rs376987651
rs376987651
PKHD1
1 1.000 0.120 6 52084933 start lost T/C snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517220
rs1057517220
PKHD1
1 1.000 0.120 6 52084927 frameshift variant GTCA/- delins 0.700 0
dbSNP: rs1554229312
rs1554229312
PKHD1
1 1.000 0.120 6 52084923 stop gained C/T snv 0.700 0
dbSNP: rs755654557
rs755654557
PKHD1
1 1.000 0.120 6 52084884 missense variant G/A snv 0.700 1.000 9 2002 2015
dbSNP: rs1554228601
rs1554228601
PKHD1
1 1.000 0.120 6 52083257 splice acceptor variant T/C snv 0.700 0
dbSNP: rs775511838
rs775511838
PKHD1
1 1.000 0.120 6 52083256 splice acceptor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1375765328
rs1375765328
PKHD1
2 0.925 0.200 6 52083252 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
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: rs773991918
rs773991918
PKHD1
1 1.000 0.120 6 52082517 frameshift variant GG/-;GGG delins 0.700 0
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: rs1554227278
rs1554227278
PKHD1
1 1.000 0.120 6 52080010 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1554227215
rs1554227215
PKHD1
1 1.000 0.120 6 52079950 stop gained G/A snv 0.700 0
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: 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: rs868562051
rs868562051
PKHD1
1 1.000 0.120 6 52079907 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs752327566
rs752327566
PKHD1
1 1.000 0.120 6 52079899 splice donor variant C/A snv 1.6E-05 2.1E-05 0.700 1.000 3 2003 2010
dbSNP: rs1554227162
rs1554227162
PKHD1
1 1.000 0.120 6 52079899 splice donor variant C/- delins 0.700 1.000 2 2003 2010
dbSNP: rs1057517270
rs1057517270
PKHD1
1 1.000 0.120 6 52076274 splice donor variant A/G snv 0.700 0
dbSNP: rs1554224707
rs1554224707
PKHD1
1 1.000 0.120 6 52073522 frameshift variant A/- del 0.700 0
dbSNP: rs1057516697
rs1057516697
PKHD1
1 1.000 0.120 6 52073462 splice donor variant C/- delins 0.700 0
dbSNP: rs757521428
rs757521428
PKHD1
1 1.000 0.120 6 52071072 splice acceptor variant T/C snv 1.2E-05 0.700 0
dbSNP: rs1554223403
rs1554223403
PKHD1
1 1.000 0.120 6 52071071 splice acceptor variant C/T snv 0.700 0
dbSNP: rs557437764
rs557437764
PKHD1
1 1.000 0.120 6 52071028 stop gained G/A;T snv 4.0E-06 0.700 0