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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.865 89 1994 2019
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.100 0.891 46 1998 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.927 41 1999 2017
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.842 38 1998 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.862 29 1998 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.786 28 1997 2015
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.100 0.727 22 1994 2019
dbSNP: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.800 0.929 14 2010 2019
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.100 1.000 14 2003 2015
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.100 0.833 12 2001 2015
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.833 12 2001 2017
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.780 1.000 9 2011 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.750 8 2006 2019
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.860 1.000 8 2009 2019
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.080 1.000 8 1999 2017
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.080 0.875 8 2003 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 7 2011 2018
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.760 0.857 7 2010 2018
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.070 1.000 7 2001 2018
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.070 0.714 7 2001 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 0.667 6 2001 2019
dbSNP: rs3754777
rs3754777
STK39
2 1.000 0.040 2 168159404 intron variant C/T snv 0.16 0.060 0.833 6 2012 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2008 2015
dbSNP: rs41511344
rs41511344
NR3C2
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.060 0.833 6 2000 2005
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.060 1.000 6 2007 2019