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: rs1057516202
rs1057516202
PKD1
1 1.000 0.120 16 2100027 inframe deletion GCT/- del 0.700 0
dbSNP: rs1057516206
rs1057516206
PKD1
1 1.000 0.120 16 2111624 stop gained A/T snv 0.700 0
dbSNP: rs1057518897
rs1057518897
PKD1
3 0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499699
rs1060499699
PKD1
1 1.000 0.120 16 2117579 missense variant G/T snv 0.700 0
dbSNP: rs1060499704
rs1060499704
PKD1
1 1.000 0.120 16 2100396 missense variant C/A snv 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0
dbSNP: rs1114167370
rs1114167370
PKD1
1 1.000 0.120 16 2118296 missense variant A/C snv 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: rs1286585831
rs1286585831
PKD1
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-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: rs1383930225
rs1383930225
PKD1
1 1.000 0.120 16 2108919 missense variant G/A snv 7.0E-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: rs1490043027
rs1490043027
PKD1
1 1.000 0.120 16 2105392 missense variant G/A snv 8.7E-06 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555450475
rs1555450475
PKD1
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555450920
rs1555450920
PKD1
1 1.000 0.120 16 2103295 missense variant T/C snv 0.700 0
dbSNP: rs1555450968
rs1555450968
PKD1
1 1.000 0.120 16 2103353 stop gained G/A snv 0.700 0
dbSNP: rs1555452400
rs1555452400
PKD1
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555454606
rs1555454606
PKD1
1 1.000 0.120 16 2108970 missense variant A/G snv 0.700 0
dbSNP: rs1555454739
rs1555454739
PKD1
1 1.000 0.120 16 2109136 stop gained G/A snv 0.700 0
dbSNP: rs1555454886
rs1555454886
PKD1
1 1.000 0.120 16 2109311 frameshift variant -/C delins 0.700 0
dbSNP: rs1555454915
rs1555454915
PKD1
2 1.000 0.120 16 2109358 frameshift variant A/- del 0.700 0
dbSNP: rs1555455453
rs1555455453
PKD1
1 1.000 0.120 16 2110146 frameshift variant G/- delins 0.700 0