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: rs1114167370
rs1114167370
PKD1
1 1.000 0.120 16 2118296 missense variant A/C snv 0.700 0
dbSNP: rs115538130
rs115538130
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090179 missense variant G/A;T snv 9.3E-04; 4.2E-06 0.700 0
dbSNP: rs1167476946
rs1167476946
PKD1 ; LOC105371049
1 1.000 0.120 16 2092492 missense variant G/A snv 0.700 0
dbSNP: rs1218054241
rs1218054241
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090776 stop gained C/A;T snv 4.1E-06 0.700 0
dbSNP: rs1266492292
rs1266492292
PKD1
1 1.000 0.120 16 2113185 missense variant C/G snv 8.4E-06 0.700 0
dbSNP: rs1282205691
rs1282205691
PKD1
1 1.000 0.120 16 2118717 missense variant C/A;T snv 0.700 0
dbSNP: rs1327414405
rs1327414405
PKD1 ; LOC105371049
1 1.000 0.120 16 2092500 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1377414968
rs1377414968
PKD1
1 1.000 0.120 16 2109801 stop gained G/A;C snv 4.1E-06 0.700 0
dbSNP: rs1401015526
rs1401015526
PKD1
1 1.000 0.120 16 2116855 stop gained G/T snv 0.700 0
dbSNP: rs1420757773
rs1420757773
PKD1
1 1.000 0.120 16 2099917 stop gained G/A;T snv 6.0E-06 0.700 0
dbSNP: rs1453883641
rs1453883641
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106459 stop gained G/A;T snv 0.700 0
dbSNP: rs1490043027
rs1490043027
PKD1
1 1.000 0.120 16 2105392 missense variant G/A snv 8.7E-06 0.700 0
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: rs1555446582
rs1555446582
PKD1 ; LOC105371049
1 1.000 0.120 16 2092972 frameshift variant -/C delins 0.700 0
dbSNP: rs1555446637
rs1555446637
PKD1 ; LOC105371049
1 1.000 0.120 16 2093077 frameshift variant A/- del 0.700 0
dbSNP: rs1555447057
rs1555447057
PKD1 ; LOC105371049
1 1.000 0.120 16 2093973 frameshift variant C/- delins 0.700 0
dbSNP: rs1555447196
rs1555447196
PKD1 ; LOC105371049
1 1.000 0.120 16 2094149 frameshift variant -/C delins 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0