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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs192427471
rs192427471 		2 0.925 0.040 4 124644124 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs11057830
rs11057830
SCARB1
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs149232047
rs149232047 		2 0.925 0.040 6 126276990 intergenic variant A/G snv 1.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs16999497
rs16999497 		2 0.925 0.040 X 129601222 regulatory region variant T/C snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs9818870
rs9818870
MRAS
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs181937009
rs181937009
LOC100507477 ; LOC107986652
3 0.925 0.040 6 140064258 intron variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2005 2005
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
dbSNP: rs6922269
rs6922269
MTHFD1L
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.020 1.000 2 2014 2015
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs869109213
rs869109213
NOS3
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2004 2012
dbSNP: rs11915606
rs11915606
BTD
2 0.925 0.040 3 15633655 intron variant T/G snv 3.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs12566888
rs12566888
PEAR1
7 0.807 0.280 1 156899255 intron variant G/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3737224
rs3737224
PEAR1
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs41273215
rs41273215
PEAR1
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs822442
rs822442
PEAR1
4 0.851 0.160 1 156913423 missense variant C/A;T snv 0.14; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2011 2011
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs9295128
rs9295128 		2 0.925 0.040 6 160330499 intergenic variant G/T snv 1.1E-02 0.700 1.000 1 2017 2017