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: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2016 2016
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: rs1060503526
rs1060503526
PKD2
2 0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs778235410
rs778235410
PKD2
2 0.925 0.120 4 88067946 stop gained C/G;T snv 2.4E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs754868200
rs754868200
PKD2
2 0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2003 2003
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2016 2016
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2006 2006
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: 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