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: rs17471
rs17471
LOC107986119
1 1.000 0.120 3 120098826 non coding transcript exon variant A/T snv 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs334543
rs334543 		1 1.000 0.120 3 120113774 intron variant C/A snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs2259816
rs2259816
HNF1A
8 0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2075241
rs2075241
LRP6 ; BCL2L14
4 0.882 0.200 12 12138545 intron variant G/A;C snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1143770
rs1143770
MIR100HG ; MIRLET7A2
4 0.882 0.200 11 122146890 intron variant C/T snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs1476046
rs1476046
EDN1
1 1.000 0.120 6 12292988 intron variant G/A snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs13254600
rs13254600
TBC1D31
1 1.000 0.120 8 123077286 intron variant C/A;G snv 0.28; 4.8E-06 0.700 1.000 1 2015 2015
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: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 0.714 7 2007 2017
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
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs759853
rs759853
AKR1B1
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.020 1.000 2 2006 2015
dbSNP: rs3807337
rs3807337
CALD1
1 1.000 0.120 7 134779071 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1866813
rs1866813 		1 1.000 0.120 3 137083096 intergenic variant A/C snv 0.14 0.020 1.000 2 2009 2013
dbSNP: rs953239
rs953239
TRPC1
1 1.000 0.120 3 142727363 intron variant A/C snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs7638459
rs7638459
TRPC1
1 1.000 0.120 3 142771309 intron variant T/C snv 0.35 0.010 1.000 1 2013 2013
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: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 0.500 2 2011 2013
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2007 2009
dbSNP: rs11771443
rs11771443
NOS3
8 0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1800783
rs1800783
NOS3
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1549758
rs1549758
NOS3
7 0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76 0.010 1.000 1 2007 2007