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: rs770461067
rs770461067
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659489 frameshift variant A/- del 1.6E-05 2.8E-05 0.700 1.000 2 2010 2016
dbSNP: rs786204749
rs786204749
PKHD1
1 1.000 0.120 6 52058377 stop gained G/T snv 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs1554219429
rs1554219429
PKHD1
1 1.000 0.120 6 52062542 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1562581286
rs1562581286
PKHD1
1 1.000 0.120 6 51903728 splice acceptor variant CT/TC mnv 0.700 1.000 1 2010 2010
dbSNP: rs398124500
rs398124500
PKHD1
1 1.000 0.120 6 51753327 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
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: rs749293235
rs749293235
PKHD1
1 1.000 0.120 6 52055593 stop gained A/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2010 2010
dbSNP: rs759851475
rs759851475
PKHD1
1 1.000 0.120 6 51632564 splice donor variant C/T snv 3.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs765209037
rs765209037
PKHD1
1 1.000 0.120 6 51744405 frameshift variant G/- del 4.0E-06 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs774759689
rs774759689
PKHD1
1 1.000 0.120 6 52017525 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs775638588
rs775638588
PKHD1
1 1.000 0.120 6 52010308 splice donor variant C/T snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs910497248
rs910497248
PKHD1
1 1.000 0.120 6 51912401 frameshift variant CA/- delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs267601070
rs267601070
PKHD1
1 1.000 0.120 6 52024928 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2009 2016
dbSNP: rs1240212722
rs1240212722
PKHD1
1 1.000 0.120 6 51882440 intron variant T/C snv 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs181208607
rs181208607
PKHD1
2 1.000 0.120 6 51847966 stop gained G/T snv 2.0E-05 2.8E-05 0.700 1.000 1 2009 2009
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: rs1555458413
rs1555458413
PKD1
2 0.925 0.120 16 2116010 missense variant G/A snv 0.700 1.000 2 2007 2012
dbSNP: rs1555454145
rs1555454145
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108335 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1555454604
rs1555454604
PKD1
1 1.000 0.120 16 2108968 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs146649803
rs146649803
PKHD1
1 1.000 0.120 6 51747897 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2005 2014
dbSNP: rs1057517158
rs1057517158
PKHD1
1 1.000 0.120 6 52050172 missense variant G/A snv 4.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs398124478
rs398124478
PKHD1
1 1.000 0.120 6 52048558 stop gained G/A;C snv 4.0E-05 0.700 1.000 3 2005 2005
dbSNP: rs747322128
rs747322128
PKHD1
1 1.000 0.120 6 51791359 missense variant C/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2005 2017
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: rs786204696
rs786204696
PKHD1
1 1.000 0.120 6 52054122 missense variant A/T snv 0.700 1.000 3 2005 2015