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: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.020 0.500 2 2009 2010
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: 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: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2012 2012
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: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2013 2013
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: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.010 1.000 1 2014 2014
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: 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: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7291444
rs7291444
PKDREJ
1 1.000 0.040 22 46260349 missense variant T/A;G snv 7.6E-03; 0.14 0.010 1.000 1 2014 2014
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: 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: 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: rs790357
rs790357
DLG2
1 1.000 0.040 11 83909897 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs571448378
rs571448378
FDXR
5 0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05 0.010 1.000 1 2016 2016
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: 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: 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