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: rs139971481
rs139971481
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108418 missense variant G/A snv 2.3E-03 2.2E-03 0.700 1.000 20 1996 2009
dbSNP: rs1401015526
rs1401015526
PKD1
1 1.000 0.120 16 2116855 stop gained G/T snv 0.700 0
dbSNP: rs140791671
rs140791671
PKD1
1 1.000 0.120 16 2100044 missense variant C/T snv 4.6E-05 1.9E-04 0.700 1.000 20 1996 2009
dbSNP: rs140869992
rs140869992
PKD1 ; MIR6511B1
2 1.000 0.120 16 2108569 missense variant G/A;T snv 1.1E-02 0.700 1.000 20 1996 2009
dbSNP: rs1416373452
rs1416373452
PKD1 ; LOC105371049
1 1.000 0.120 16 2093664 missense variant C/G snv 4.2E-06 0.700 1.000 20 1996 2009
dbSNP: rs141946034
rs141946034
PKD1 ; LOC105371049
1 1.000 0.120 16 2094179 missense variant G/C snv 1.3E-03 7.6E-04 0.700 1.000 20 1996 2009
dbSNP: rs1420757773
rs1420757773
PKD1
1 1.000 0.120 16 2099917 stop gained G/A;T snv 6.0E-06 0.700 0
dbSNP: rs142768096
rs142768096
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090717 missense variant C/A;T snv 6.1E-05; 1.2E-04 0.700 1.000 20 1996 2009
dbSNP: rs143690392
rs143690392
PKD1
1 1.000 0.120 16 2111149 missense variant G/A snv 2.6E-03 3.2E-03 0.700 1.000 20 1996 2009
dbSNP: rs1453883641
rs1453883641
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106459 stop gained G/A;T snv 0.700 0
dbSNP: rs1456510041
rs1456510041
PKD1
1 1.000 0.120 16 2103755 missense variant C/T snv 8.1E-06 0.700 1.000 20 1996 2009
dbSNP: rs148812376
rs148812376
PKD1
3 0.882 0.120 16 2099955 missense variant G/A snv 1.7E-04 3.2E-04 0.700 1.000 3 2009 2016
dbSNP: rs1490043027
rs1490043027
PKD1
1 1.000 0.120 16 2105392 missense variant G/A snv 8.7E-06 0.700 0
dbSNP: rs149151043
rs149151043
PKD1
1 1.000 0.120 16 2103617 missense variant C/T snv 6.1E-03 6.3E-03 0.700 1.000 20 1996 2009
dbSNP: rs151257298
rs151257298
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106587 missense variant G/A snv 0.700 1.000 20 1996 2009
dbSNP: rs1555444249
rs1555444249
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555444985
rs1555444985
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090781 stop gained G/A snv 0.700 0
dbSNP: rs1555445585
rs1555445585
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091571 frameshift variant TG/- delins 0.700 0
dbSNP: rs1555445740
rs1555445740
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091865 missense variant C/T snv 0.700 0
dbSNP: rs1555445999
rs1555445999
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092113 frameshift variant -/CGTAATC delins 0.700 0
dbSNP: rs1555446033
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs1555446053
rs1555446053
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092152 frameshift variant TG/- delins 0.700 0
dbSNP: rs1555446330
rs1555446330
PKD1 ; LOC105371049
1 1.000 0.120 16 2092491 missense variant C/T snv 0.700 0
dbSNP: rs1555446576
rs1555446576
PKD1 ; LOC105371049
1 1.000 0.120 16 2092954 missense variant C/T snv 0.800 1.000 20 1996 2009
dbSNP: rs1555446582
rs1555446582
PKD1 ; LOC105371049
1 1.000 0.120 16 2092972 frameshift variant -/C delins 0.700 0