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: rs5750250
rs5750250
MYH9
1 1.000 0.120 22 36312438 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs6930576
rs6930576
SASH1
1 1.000 0.120 6 148383818 intron variant G/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs6997279
rs6997279
SLC30A8
3 0.882 0.160 8 116961613 intron variant G/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7222331
rs7222331
KRTAP3-3
3 0.925 0.120 17 40995605 upstream gene variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs73206603
rs73206603
LOC107984625
3 0.882 0.160 13 59495931 regulatory region variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs735853
rs735853
MYH9
1 1.000 0.120 22 36283169 intron variant C/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs7916840
rs7916840
GPR158
2 0.925 0.160 10 25424152 intron variant A/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs9533481
rs9533481
ENOX1
1 1.000 0.120 13 43415049 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.960 25 2000 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.905 21 1996 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 15 2004 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.909 11 1996 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2000 2019
dbSNP: rs11643718
rs11643718
SLC12A3
10 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.070 1.000 7 2003 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 0.714 7 2007 2017
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 0.667 6 2007 2012
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.050 1.000 5 2013 2015
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.050 0.800 5 1996 2019
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 1.000 5 2006 2018
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.030 1.000 3 2013 2019
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.030 1.000 3 2004 2007
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs741301
rs741301
ELMO1
3 0.925 0.160 7 36878390 intron variant C/T snv 0.59 0.030 1.000 3 2013 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 1.000 3 2014 2018
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.020 1.000 2 2011 2015