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 0.090 0.889 9 1997 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2001 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2004 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 1.000 3 2004 2012
dbSNP: rs1319501
rs1319501
NAMPT
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.020 1.000 2 2015 2017
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs3801266
rs3801266
NAMPT
3 0.925 0.080 7 106283804 intron variant T/C snv 0.26 0.020 1.000 2 2015 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2014
dbSNP: rs41511344
rs41511344
NR3C2
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.020 0.500 2 2004 2011
dbSNP: rs10458894
rs10458894
STIM1
1 11 3892042 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2010 2010
dbSNP: rs11466414
rs11466414
TGFB3 ; IFT43
1 14 75981507 non coding transcript exon variant G/A snv 4.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12710567
rs12710567
AGTR2
1 X 116170599 upstream gene variant T/C snv 3.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs142724505
rs142724505
EXOSC4
2 1.000 0.080 8 144080528 missense variant G/A snv 1.8E-03 1.7E-03 0.010 1.000 1 2010 2010
dbSNP: rs1643821
rs1643821
ESR1
2 6 151862416 intron variant G/A snv 0.46 0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 < 0.001 1 2018 2018
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2012 2012
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
4 0.925 0.080 1 209687323 intron variant T/A;C snv 0.010 1.000 1 2013 2013