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: rs1554219449
rs1554219449
PKHD1
1 1.000 0.120 6 52062568 frameshift variant -/A delins 0.700 1.000 2 2003 2004
dbSNP: rs1057516263
rs1057516263
PKHD1
1 1.000 0.120 6 52025216 frameshift variant -/A delins 0.700 1.000 1 2004 2004
dbSNP: rs1057517071
rs1057517071
PKHD1
1 1.000 0.120 6 51744431 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: rs1554183480
rs1554183480
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659602 frameshift variant -/A delins 0.700 0
dbSNP: rs863224528
rs863224528
PKHD1
1 1.000 0.120 6 51868035 frameshift variant -/A delins 0.700 0
dbSNP: rs1554218519
rs1554218519
PKHD1
1 1.000 0.120 6 51748084 frameshift variant -/AA delins 0.700 0
dbSNP: rs1554216499
rs1554216499
PKHD1
1 1.000 0.120 6 52056764 frameshift variant -/AACT delins 0.700 1.000 1 2002 2002
dbSNP: rs1057517357
rs1057517357
PKHD1
1 1.000 0.120 6 51746859 stop gained -/AACT delins 0.700 0
dbSNP: rs1057516413
rs1057516413
PKHD1
1 1.000 0.120 6 51748142 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1057517326
rs1057517326
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659664 frameshift variant -/C delins 0.700 0
dbSNP: rs1555453872
rs1555453872
PKD1 ; MIR6511B1
1 1.000 0.120 16 2107947 frameshift variant -/CAGCCGC delins 0.700 0
dbSNP: rs797044713
rs797044713
PKHD1
1 1.000 0.120 6 52028187 frameshift variant -/G delins 4.0E-06 1.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs1554221465
rs1554221465
PKHD1
1 1.000 0.120 6 51754903 frameshift variant -/G delins 0.700 0
dbSNP: rs1554191298
rs1554191298
PKHD1
1 1.000 0.120 6 52010368 frameshift variant -/GGCG delins 0.700 0
dbSNP: rs1554162725
rs1554162725
PKHD1
1 1.000 0.120 6 51959882 frameshift variant -/GT ins 0.700 0
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: rs1554212326
rs1554212326
PKHD1
1 1.000 0.120 6 52050255 frameshift variant -/T delins 0.700 1.000 1 2005 2005
dbSNP: rs1554200778
rs1554200778
PKHD1
1 1.000 0.120 6 52028251 frameshift variant -/TG delins 0.700 0
dbSNP: rs1405067373
rs1405067373
PKHD1
1 1.000 0.120 6 51911906 frameshift variant A/- delins 4.0E-06 0.700 1.000 2 2003 2014
dbSNP: rs1554289495
rs1554289495
PKHD1
1 1.000 0.120 6 51885960 frameshift variant A/- delins 0.700 1.000 2 2010 2010
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: rs1555444225
rs1555444225
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090125 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs1057516382
rs1057516382
PKHD1
1 1.000 0.120 6 52025253 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516835
rs1057516835
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659708 frameshift variant A/- delins 0.700 0