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: rs11749255
rs11749255 		1 1.000 0.040 5 174642665 intergenic variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs12817819
rs12817819
ATP2B1
3 0.882 0.040 12 89645549 intron variant C/T snv 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1334067073
rs1334067073
ACE
2 0.925 0.120 17 63478025 missense variant C/G;T snv 4.2E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1799979
rs1799979
SCNN1B
2 1.000 0.040 16 23380659 missense variant C/G;T snv 8.1E-06; 2.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs243866
rs243866
MMP2
8 0.827 0.120 16 55477625 intron variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs324498
rs324498
PTPRD
1 1.000 0.040 9 9059545 intron variant G/A snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs5522
rs5522
NR3C2
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2016 2016
dbSNP: rs6487504
rs6487504 		1 1.000 0.040 12 25654374 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7194256
rs7194256
SLC6A2
7 0.827 0.120 16 55703779 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018