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: 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: rs369925690
rs369925690
PKHD1
2 0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04 0.800 1.000 14 2002 2015
dbSNP: rs745770404
rs745770404
PKHD1
2 0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 12 2002 2015
dbSNP: rs200391019
rs200391019
PKHD1
2 0.925 0.120 6 52024940 missense variant G/A snv 1.5E-04 6.3E-05 0.800 1.000 8 1975 2016
dbSNP: rs137852949
rs137852949
PKHD1
2 0.925 0.240 6 52058349 stop gained G/A;C snv 6.6E-04; 4.0E-06 0.700 1.000 3 2003 2010
dbSNP: rs1555458413
rs1555458413
PKD1
2 0.925 0.120 16 2116010 missense variant G/A snv 0.700 1.000 2 2007 2012
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: rs746972457
rs746972457
PKHD1
2 0.925 0.240 6 52026044 frameshift variant G/- delins 5.1E-04 2.2E-04 0.700 1.000 1 2010 2010
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 1.000 1 2003 2003
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: rs1553925470
rs1553925470
PKD2
2 0.925 0.120 4 88038502 splice region variant AAGT/- delins 0.700 0
dbSNP: rs747483368
rs747483368
PKD1
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs142107837
rs142107837
PKHD1
1 1.000 0.120 6 52028349 missense variant C/T snv 8.0E-06 2.8E-05 0.800 1.000 16 2002 2015
dbSNP: rs760222236
rs760222236
PKHD1
1 1.000 0.120 6 51753281 missense variant A/G snv 5.2E-05 7.0E-05 0.800 1.000 16 2002 2016
dbSNP: rs1210846081
rs1210846081
PKHD1
1 1.000 0.120 6 51959953 missense variant T/C snv 0.800 1.000 13 2002 2015
dbSNP: rs200179145
rs200179145
PKHD1
1 1.000 0.120 6 51903601 missense variant A/G;T snv 4.0E-06; 4.6E-04 0.800 1.000 13 2002 2016
dbSNP: rs777999875
rs777999875
PKHD1
1 1.000 0.120 6 52017497 missense variant T/C snv 1.6E-05 0.800 1.000 12 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: rs1197981811
rs1197981811
PKHD1
1 1.000 0.120 6 52025059 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 2002 2015
dbSNP: rs1210348558
rs1210348558
PKHD1
1 1.000 0.120 6 51934238 missense variant A/G snv 4.0E-06 0.700 1.000 10 2002 2015
dbSNP: rs1288017883
rs1288017883
PKHD1
1 1.000 0.120 6 52065011 missense variant A/G snv 4.0E-06 0.700 1.000 10 2002 2015
dbSNP: rs137852945
rs137852945
PKHD1
1 1.000 0.120 6 51748563 missense variant G/A snv 0.800 1.000 10 2002 2015
dbSNP: rs137852946
rs137852946
PKHD1
1 1.000 0.120 6 52024589 missense variant C/T snv 2.8E-05 1.4E-05 0.700 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