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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2013 2018
dbSNP: rs10202118
rs10202118
LOC730100
1 1.000 0.040 2 51723186 intron variant C/T snv 0.67 0.020 1.000 2 2012 2015
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2013 2015
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.020 0.500 2 2017 2019
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.020 1.000 2 2015 2015
dbSNP: rs1279683
rs1279683
SLC23A2
3 1.000 0.040 20 5002446 intron variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs1533428
rs1533428
LOC730100
1 1.000 0.040 2 51732120 intron variant T/A;C snv 0.020 1.000 2 2012 2013
dbSNP: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.020 1.000 2 2009 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2010 2013
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2013 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2012 2014
dbSNP: rs180040
rs180040 		3 0.882 0.120 15 97027933 intergenic variant T/C snv 0.85 0.020 0.500 2 2012 2015
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.020 0.500 2 2011 2016
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.020 1.000 2 2000 2002
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.020 1.000 2 2000 2001
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.020 1.000 2 2010 2017
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.020 1.000 2 2013 2015
dbSNP: rs369410616
rs369410616
MUTYH
10 0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05 0.020 1.000 2 2013 2015
dbSNP: rs3918188
rs3918188
NOS3
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.020 < 0.001 2 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs74315334
rs74315334
MYOC ; MYOCOS
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
dbSNP: rs74315336
rs74315336
MYOC ; MYOCOS
4 0.851 0.040 1 171636173 missense variant T/C snv 0.020 1.000 2 2003 2007
dbSNP: rs74315338
rs74315338
MYOC ; MYOCOS
3 0.882 0.040 1 171636143 missense variant A/G snv 0.020 1.000 2 2003 2018
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.020 1.000 2 2009 2011