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: rs1302726543
rs1302726543
PKD2
2 0.925 0.120 4 88019499 stop gained C/T snv 7.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs1553927080
rs1553927080
PKD2
1 1.000 0.120 4 88058104 splice donor variant G/A snv 0.700 1.000 2 2007 2012
dbSNP: rs1060503526
rs1060503526
PKD2
2 0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs1232369409
rs1232369409
PKD2
1 1.000 0.120 4 88008244 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs1391596181
rs1391596181
PKD2
1 1.000 0.120 4 88046647 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1553926509
rs1553926509
PKD2
1 1.000 0.120 4 88052018 frameshift variant TA/- delins 0.700 0
dbSNP: rs1553926905
rs1553926905
PKD2
1 1.000 0.120 4 88056143 stop gained C/T snv 0.700 0
dbSNP: rs1555452849
rs1555452849
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106172 frameshift variant G/- delins 0.700 0
dbSNP: rs1560592253
rs1560592253
PKD2
1 1.000 0.120 4 88008174 frameshift variant G/- delins 0.700 0
dbSNP: rs750723025
rs750723025
GANAB ; INTS5
1 1.000 0.120 11 62646584 inframe deletion TACCGC/- delins 7.0E-06 0.700 0