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: 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: rs1249050389
rs1249050389
PTCH1
2 0.925 0.240 9 95485696 stop gained G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1487813753
rs1487813753
PKD2L1
1 1.000 0.120 10 100293336 missense variant T/C;G snv 8.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs750723025
rs750723025
GANAB ; INTS5
1 1.000 0.120 11 62646584 inframe deletion TACCGC/- delins 7.0E-06 0.700 0
dbSNP: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1555452849
rs1555452849
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106172 frameshift variant G/- delins 0.700 0
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: 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: 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: rs746231889
rs746231889
PRKCSH
1 1.000 0.120 19 11447152 missense variant C/A;G;T snv 4.0E-06; 1.9E-04 0.010 < 0.001 1 2005 2005