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: rs767169659
rs767169659
MYLK
1 1.000 0.040 3 123733800 missense variant G/A snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs77294580
rs77294580
ACE
1 1.000 0.040 17 63480396 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs782591769
rs782591769
ELN
1 1.000 0.040 7 74045237 missense variant G/C snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs8125581
rs8125581
MMP9
1 1.000 0.040 20 46010604 missense variant G/A snv 3.0E-04 3.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs201191171
rs201191171
MMP9 ; SLC12A5-AS1
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs326118
rs326118
MTRR ; FASTKD3
2 0.925 0.080 5 7868430 intron variant T/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs595244
rs595244
FBN1
3 0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs602633
rs602633 		10 0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs764522
rs764522
TGFBR2 ; LOC105377015
3 0.882 0.080 3 30605058 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs773474756
rs773474756
MMP1 ; WTAPP1
2 0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs7866503
rs7866503
CDKN2B-AS1
3 0.882 0.080 9 22091925 intron variant G/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs8087799
rs8087799 		3 0.882 0.080 18 22605468 regulatory region variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs919433
rs919433
ANKRD44 ; ANKRD44-IT1
3 0.882 0.080 2 197301841 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.020 1.000 2 2014 2019
dbSNP: rs3019885
rs3019885
SLC30A8
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.710 1.000 2 2011 2015
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.810 1.000 2 2013 2017
dbSNP: rs12191786
rs12191786
CASC15
4 0.851 0.120 6 22004398 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2014 2014
dbSNP: rs4988300
rs4988300
LRP5
2 0.925 0.120 11 68321363 intron variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs5516
rs5516
KLK1
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.010 1.000 1 2011 2011
dbSNP: rs1466535
rs1466535
LRP1
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.840 1.000 4 2011 2015
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs3877899
rs3877899
SELENOP ; CCDC152
7 0.827 0.160 5 42801166 missense variant C/A;T snv 4.0E-06; 0.20 0.010 1.000 1 2014 2014