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: rs121918043
rs121918043
PKD2
2 0.925 0.120 4 88046854 missense variant A/T snv 0.800 1.000 13 1997 2018
dbSNP: rs1553925453
rs1553925453
PKD2
2 0.925 0.120 4 88038371 missense variant C/T snv 0.800 1.000 13 1997 2018
dbSNP: rs1060503526
rs1060503526
PKD2
2 0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs1131692280
rs1131692280
PKD2
3 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1135401753
rs1135401753
PKD2
1 1.000 0.120 4 88046780 stop gained C/G snv 0.700 0
dbSNP: rs121918039
rs121918039
PKD2
1 1.000 0.120 4 88043277 stop gained G/A snv 0.700 0
dbSNP: rs121918040
rs121918040
PKD2
2 0.925 0.120 4 88065479 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs121918041
rs121918041
PKD2
1 1.000 0.120 4 88043351 stop gained C/T snv 0.700 0
dbSNP: rs121918042
rs121918042
PKD2
1 1.000 0.120 4 88046712 stop gained C/T snv 0.700 0
dbSNP: rs1302726543
rs1302726543
PKD2
2 0.925 0.120 4 88019499 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs145877597
rs145877597
PKD2
1 1.000 0.120 4 88038372 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs147654263
rs147654263
PKD2
1 1.000 0.120 4 88067959 missense variant G/A snv 3.0E-03 3.1E-03 0.700 0
dbSNP: rs1553923513
rs1553923513
PKD2
1 1.000 0.120 4 88008210 frameshift variant GGCCCGCCGTGCCCCAGCCCAG/- delins 0.700 0
dbSNP: rs1553924174
rs1553924174
PKD2
1 1.000 0.120 4 88019552 frameshift variant -/C delins 0.700 0
dbSNP: rs1553925459
rs1553925459
PKD2
1 1.000 0.120 4 88038392 frameshift variant G/- delins 0.700 0
dbSNP: rs1553925467
rs1553925467
PKD2
1 1.000 0.120 4 88038494 frameshift variant G/- delins 0.700 0
dbSNP: rs1553925470
rs1553925470
PKD2
2 0.925 0.120 4 88038502 splice region variant AAGT/- delins 0.700 0
dbSNP: rs1553926929
rs1553926929
PKD2
1 1.000 0.120 4 88056272 splice region variant G/A snv 0.700 0
dbSNP: rs1553928730
rs1553928730
PKD2
1 1.000 0.120 4 88074812 frameshift variant C/- delins 0.700 0
dbSNP: rs1560598042
rs1560598042
PKD2
1 1.000 0.120 4 88019554 frameshift variant -/C delins 0.700 0
dbSNP: rs1560608729
rs1560608729
PKD2
1 1.000 0.120 4 88038406 frameshift variant C/AGA delins 0.700 0
dbSNP: rs1560617356
rs1560617356
PKD2
1 1.000 0.120 4 88052064 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs1560620277
rs1560620277
PKD2
1 1.000 0.120 4 88056106 frameshift variant TAACAGGACC/AACAGG delins 0.700 0
dbSNP: rs1560621750
rs1560621750
PKD2
1 1.000 0.120 4 88058018 frameshift variant AC/T delins 0.700 0
dbSNP: rs1560628245
rs1560628245
PKD2
1 1.000 0.120 4 88068039 frameshift variant -/T delins 0.700 0