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: rs1555446582
rs1555446582
PKD1 ; LOC105371049
1 1.000 0.120 16 2092972 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: rs1555454886
rs1555454886
PKD1
1 1.000 0.120 16 2109311 frameshift variant -/C delins 0.700 0
dbSNP: rs1567165997
rs1567165997
PKD1
1 1.000 0.120 16 2097942 frameshift variant -/C delins 0.700 0
dbSNP: rs1555445999
rs1555445999
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2092113 frameshift variant -/CGTAATC delins 0.700 0
dbSNP: rs1555450475
rs1555450475
PKD1
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555456661
rs1555456661
PKD1
1 1.000 0.120 16 2111663 frameshift variant -/G delins 0.700 0
dbSNP: rs1555457807
rs1555457807
PKD1
1 1.000 0.120 16 2114391 frameshift variant -/GGCAG delins 0.700 0
dbSNP: rs1555446637
rs1555446637
PKD1 ; LOC105371049
1 1.000 0.120 16 2093077 frameshift variant A/- del 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555454915
rs1555454915
PKD1
2 1.000 0.120 16 2109358 frameshift variant A/- del 0.700 0
dbSNP: rs1114167370
rs1114167370
PKD1
1 1.000 0.120 16 2118296 missense variant A/C snv 0.700 0
dbSNP: rs1555456744
rs1555456744
PKD1
1 1.000 0.120 16 2111731 missense variant A/C snv 0.700 0
dbSNP: rs201238819
rs201238819
PKD1
1 1.000 0.120 16 2104572 missense variant A/C;G;T snv 1.1E-03; 1.6E-04 0.700 1.000 20 1996 2009
dbSNP: rs199476100
rs199476100
PKD1
2 0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 0.810 1.000 21 1996 2009
dbSNP: rs1555450487
rs1555450487
PKD1
1 1.000 0.120 16 2102604 missense variant A/G snv 0.700 1.000 20 1996 2009
dbSNP: rs1555458892
rs1555458892
PKD1
1 1.000 0.120 16 2117568 missense variant A/G snv 0.700 1.000 20 1996 2009
dbSNP: rs2549677
rs2549677
PKD1
1 1.000 0.120 16 2112360 missense variant A/G snv 7.2E-02 0.21 0.700 1.000 20 1996 2009
dbSNP: rs1555454606
rs1555454606
PKD1
1 1.000 0.120 16 2108970 missense variant A/G snv 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: rs9925969
rs9925969
PKD1
1 1.000 0.120 16 2102386 missense variant A/G snv 0.16 0.25 0.700 0
dbSNP: rs1616940
rs1616940
PKD1
2 0.925 0.120 16 2114843 missense variant A/G;T snv 0.700 0
dbSNP: rs1567206904
rs1567206904
PKD1
1 1.000 0.120 16 2112878 frameshift variant A/GGG delins 0.700 0
dbSNP: rs1057516206
rs1057516206
PKD1
1 1.000 0.120 16 2111624 stop gained A/T snv 0.700 0