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: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.020 0.500 2 2012 2016
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: 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: rs12419342
rs12419342
RAPSN
2 1.000 0.040 11 47446993 intron variant C/T snv 0.61 0.010 1.000 1 2017 2017
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2013 2013
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: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2013 2013
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: rs743507
rs743507
NOS3
4 0.882 0.200 7 151010400 intron variant C/T snv 0.77 0.010 1.000 1 2011 2011
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: rs770691402
rs770691402
FDXR
2 1.000 0.040 17 74866514 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs782006965
rs782006965
ADAMTS10
2 0.925 0.040 19 8589505 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
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: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.010 1.000 1 2014 2014
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: 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: rs790357
rs790357
DLG2
1 1.000 0.040 11 83909897 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.020 0.500 2 2009 2010
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: rs3766355
rs3766355
PTGFR
3 0.882 0.040 1 78491756 intron variant C/A;T snv 0.020 1.000 2 2015 2016
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: rs766147142
rs766147142
FDXR
2 0.925 0.040 17 74863112 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs33912345
rs33912345
SIX6 ; C14orf39
7 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015