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: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.070 0.857 7 1999 2017
dbSNP: rs3766355
rs3766355
PTGFR
3 0.882 0.040 1 78491756 intron variant C/A;T snv 0.020 1.000 2 2015 2016
dbSNP: rs12093097
rs12093097
PTGFR
1 1.000 0.040 1 78489470 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs3753380
rs3753380
PTGFR
1 1.000 0.040 1 78490747 intron variant T/C snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs74315341
rs74315341
MYOC ; MYOCOS
4 0.851 0.040 1 171636686 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs7518099
rs7518099
TMCO1 ; TMCO1-AS1
4 0.925 0.040 1 165767643 intron variant C/T snv 0.89 0.010 1.000 1 2014 2014
dbSNP: rs79204362
rs79204362
CYP1B1
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs4241366
rs4241366
SLCO2A1
2 0.925 0.040 3 134031326 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6445055
rs6445055
FNDC3B
4 0.925 0.040 3 172274597 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
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 2002 2002
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1049673
rs1049673
CD36
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11771443
rs11771443
NOS3
8 0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs17588172
rs17588172 		2 0.925 0.040 7 116513961 intergenic variant T/G snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1761667
rs1761667
CD36
12 0.752 0.320 7 80615623 intron variant G/A snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs3211931
rs3211931
CD36
3 0.925 0.080 7 80668857 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs3793342
rs3793342
NOS3
4 0.851 0.040 7 150998107 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs3918188
rs3918188
NOS3
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs743507
rs743507
NOS3
4 0.882 0.200 7 151010400 intron variant C/T snv 0.77 0.010 1.000 1 2011 2011