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: rs1327414405
rs1327414405
PKD1 ; LOC105371049
1 1.000 0.120 16 2092500 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1383930225
rs1383930225
PKD1
1 1.000 0.120 16 2108919 missense variant G/A snv 7.0E-06 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: rs1555445740
rs1555445740
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091865 missense variant C/T snv 0.700 0
dbSNP: rs1555446330
rs1555446330
PKD1 ; LOC105371049
1 1.000 0.120 16 2092491 missense variant C/T snv 0.700 0
dbSNP: rs1555450920
rs1555450920
PKD1
1 1.000 0.120 16 2103295 missense variant T/C snv 0.700 0
dbSNP: rs1555453207
rs1555453207
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106619 missense variant G/A;T snv 0.700 0
dbSNP: rs1555454606
rs1555454606
PKD1
1 1.000 0.120 16 2108970 missense variant A/G snv 0.700 0
dbSNP: rs1555456744
rs1555456744
PKD1
1 1.000 0.120 16 2111731 missense variant A/C snv 0.700 0
dbSNP: rs1616940
rs1616940
PKD1
2 0.925 0.120 16 2114843 missense variant A/G;T snv 0.700 0
dbSNP: rs200037070
rs200037070
PKD1
1 1.000 0.120 16 2106158 missense variant G/A snv 1.6E-03 1.4E-03 0.700 0
dbSNP: rs200433577
rs200433577
PKD1 ; MIR6511B1
1 1.000 0.120 16 2107963 missense variant G/A snv 3.3E-05 3.5E-05 0.700 0
dbSNP: rs200522524
rs200522524
PKD1
1 1.000 0.120 16 2102467 missense variant G/A;T snv 1.9E-05; 2.3E-04 0.700 0
dbSNP: rs374500158
rs374500158
PKD1
1 1.000 0.120 16 2105401 missense variant A/G snv 2.3E-04 2.8E-04 0.700 0
dbSNP: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.700 0
dbSNP: rs752447240
rs752447240
PKD1
1 1.000 0.120 16 2103390 missense variant G/C snv 1.3E-05 0.700 0
dbSNP: rs758896945
rs758896945
PKD1
1 1.000 0.120 16 2106022 missense variant G/C snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs79000340
rs79000340
PKD1 ; LOC105371049
1 1.000 0.120 16 2093954 missense variant C/A;G;T snv 9.8E-06; 4.9E-06; 2.2E-03 0.700 0
dbSNP: rs9925969
rs9925969
PKD1
1 1.000 0.120 16 2102386 missense variant A/G snv 0.16 0.25 0.700 0
dbSNP: rs9936785
rs9936785
PKD1
1 1.000 0.120 16 2105425 missense variant T/C snv 4.4E-02 0.19 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0
dbSNP: rs1060499702
rs1060499702
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108743 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499718
rs1060499718
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090418 frameshift variant CA/- delins 0.700 0
dbSNP: rs1555444249
rs1555444249
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555445585
rs1555445585
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2091571 frameshift variant TG/- delins 0.700 0