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 0.060 0.833 6 2003 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2019
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs7576192
rs7576192 		2 1.000 0.040 2 120360455 intergenic variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7020782
rs7020782
PAPPA
1 1.000 0.040 9 116344602 missense variant C/A snv 0.68 0.59 0.010 1.000 1 2015 2015
dbSNP: rs770016471
rs770016471
ACE
1 1.000 0.040 17 63497260 missense variant C/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs2059806
rs2059806
INSR
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 1.000 2 2008 2012
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs779370907
rs779370907
ISYNA1
1 1.000 0.040 19 18436405 synonymous variant C/T snv 6.0E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs780972489
rs780972489
ISYNA1
1 1.000 0.040 19 18436831 synonymous variant C/T snv 8.9E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.020 1.000 2 2008 2012
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.020 1.000 2 2011 2012
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2536512
rs2536512
SOD3
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2009 2009