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: rs1249050389
rs1249050389
PTCH1
2 0.925 0.240 9 95485696 stop gained G/C snv 0.010 1.000 1 2018 2018
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: rs1391596181
rs1391596181
PKD2
1 1.000 0.120 4 88046647 stop gained T/A;C snv 4.0E-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: 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: rs1464816
rs1464816
REN
2 1.000 0.120 1 204159726 intron variant T/C;G snv 0.010 1.000 1 2016 2016
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: 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: rs1553926509
rs1553926509
PKD2
1 1.000 0.120 4 88052018 frameshift variant TA/- 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