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: rs1057516768
rs1057516768
PKHD1
1 1.000 0.120 6 52069487 stop gained G/A snv 0.700 0
dbSNP: rs1057516775
rs1057516775
PKHD1
1 1.000 0.120 6 51836415 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516804
rs1057516804
PKHD1
1 1.000 0.120 6 51934140 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516835
rs1057516835
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659708 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516885
rs1057516885
PKHD1
1 1.000 0.120 6 52024920 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516922
rs1057516922
PKHD1
1 1.000 0.120 6 52033081 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516975
rs1057516975
PKHD1
1 1.000 0.120 6 52058426 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516982
rs1057516982
PKHD1
1 1.000 0.120 6 52027898 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517071
rs1057517071
PKHD1
1 1.000 0.120 6 51744431 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517078
rs1057517078
PKHD1
1 1.000 0.120 6 51867883 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517178
rs1057517178
PKHD1
1 1.000 0.120 6 52059956 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517220
rs1057517220
PKHD1
1 1.000 0.120 6 52084927 frameshift variant GTCA/- delins 0.700 0
dbSNP: rs1057517244
rs1057517244
PKHD1
1 1.000 0.120 6 51753319 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517249
rs1057517249
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659926 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1057517270
rs1057517270
PKHD1
1 1.000 0.120 6 52076274 splice donor variant A/G snv 0.700 0
dbSNP: rs1057517273
rs1057517273
PKHD1
1 1.000 0.120 6 52025870 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs1057517324
rs1057517324
PKHD1
1 1.000 0.120 6 51627006 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517326
rs1057517326
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659664 frameshift variant -/C delins 0.700 0
dbSNP: rs1057517357
rs1057517357
PKHD1
1 1.000 0.120 6 51746859 stop gained -/AACT delins 0.700 0
dbSNP: rs1057517378
rs1057517378
PKHD1
1 1.000 0.120 6 51912577 splice acceptor variant CTA/T delins 0.700 0
dbSNP: rs1057517387
rs1057517387
PKHD1
1 1.000 0.120 6 51748658 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517394
rs1057517394
PKHD1
1 1.000 0.120 6 52043633 frameshift variant T/- del 0.700 0
dbSNP: rs1060501356
rs1060501356
PKHD1
1 1.000 0.120 6 51746842 missense variant C/G;T snv 0.700 0
dbSNP: rs1160209891
rs1160209891
PKHD1
1 1.000 0.120 6 51847971 splice acceptor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1187112770
rs1187112770
PKHD1
1 1.000 0.120 6 51934137 missense variant C/G snv 4.0E-06 7.0E-06 0.700 0