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: rs1210846081
rs1210846081
PKHD1
1 1.000 0.120 6 51959953 missense variant T/C snv 0.800 1.000 13 2002 2015
dbSNP: rs1554218666
rs1554218666
PKHD1
1 1.000 0.120 6 51748246 missense variant G/A snv 0.800 1.000 11 2002 2016
dbSNP: rs137852945
rs137852945
PKHD1
1 1.000 0.120 6 51748563 missense variant G/A snv 0.800 1.000 10 2002 2015
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: 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: rs28937907
rs28937907
PKHD1
1 1.000 0.120 6 52024819 missense variant G/A snv 0.800 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: 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: rs755654557
rs755654557
PKHD1
1 1.000 0.120 6 52084884 missense variant G/A snv 0.700 1.000 9 2002 2015
dbSNP: rs886042259
rs886042259
PKHD1
1 1.000 0.120 6 52069471 missense variant T/C snv 0.700 1.000 9 2002 2015
dbSNP: rs750798165
rs750798165
PKD1
1 1.000 0.120 16 2116856 missense variant T/A;C snv 0.700 1.000 3 2007 2012
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: rs770522674
rs770522674
PKHD1
1 1.000 0.120 6 52022858 stop gained G/A snv 7.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs786204588
rs786204588
PKHD1
1 1.000 0.120 6 52069521 frameshift variant CATT/- del 0.700 1.000 3 2002 2010
dbSNP: rs786204688
rs786204688
PKHD1
1 1.000 0.120 6 51748297 stop gained G/A snv 7.0E-06 0.710 1.000 3 2003 2013
dbSNP: rs786204696
rs786204696
PKHD1
1 1.000 0.120 6 52054122 missense variant A/T snv 0.700 1.000 3 2005 2015
dbSNP: rs1554167673
rs1554167673
PKHD1
1 1.000 0.120 6 51632618 stop gained C/T snv 0.700 1.000 2 2002 2005
dbSNP: rs1554183235
rs1554183235
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659270 frameshift variant T/- delins 0.700 1.000 2 2010 2014
dbSNP: rs1554219449
rs1554219449
PKHD1
1 1.000 0.120 6 52062568 frameshift variant -/A delins 0.700 1.000 2 2003 2004