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: rs1553925453
rs1553925453
PKD2
2 0.925 0.120 4 88038371 missense variant C/T snv 0.700 1.000 9 2002 2017
dbSNP: rs749004212
rs749004212
PKD2
1 1.000 0.120 4 88038365 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 7 1999 2016
dbSNP: rs1131692280
rs1131692280
PKD2
3 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 5 2000 2012
dbSNP: rs121918040
rs121918040
PKD2
2 0.925 0.120 4 88065479 stop gained C/T snv 7.0E-06 0.700 1.000 4 1996 2013
dbSNP: rs1187336837
rs1187336837
PKD2
1 1.000 0.120 4 88007931 frameshift variant C/-;CC delins 0.700 1.000 3 1999 2012
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
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2002 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 1997 2003
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 1.000 2 2003 2003
dbSNP: rs11122577
rs11122577
AGT
2 1.000 0.120 1 230711810 intron variant C/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs121918043
rs121918043
PKD2
2 0.925 0.120 4 88046854 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1249050389
rs1249050389
PTCH1
2 0.925 0.240 9 95485696 stop gained G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1392093609
rs1392093609
PKD2
1 1.000 0.120 4 88007759 missense variant C/T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs1464816
rs1464816
REN
2 1.000 0.120 1 204159726 intron variant T/C;G snv 0.010 1.000 1 2016 2016