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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.050 0.800 5 2010 2018
dbSNP: rs9818870
rs9818870
MRAS
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.740 0.600 5 2011 2019
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.720 1.000 4 2013 2017
dbSNP: rs12526453
rs12526453
PHACTR1
5 0.827 0.160 6 12927312 intron variant C/G snv 0.27 0.730 1.000 4 2013 2019
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.810 1.000 4 2013 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.040 1.000 4 2014 2019
dbSNP: rs1870634
rs1870634 		4 0.851 0.080 10 43985363 downstream gene variant T/G snv 0.59 0.710 1.000 4 2015 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.040 1.000 4 2014 2016
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.040 1.000 4 2015 2016
dbSNP: rs3918226
rs3918226
NOS3
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.700 1.000 4 2015 2018
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.040 1.000 4 2015 2019
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.040 1.000 4 2010 2017
dbSNP: rs7500448
rs7500448
CDH13
3 1.000 0.040 16 83012185 intron variant A/G snv 0.20 0.700 1.000 4 2017 2018
dbSNP: rs775381348
rs775381348
PSMA6
8 0.807 0.160 14 35308023 missense variant G/T snv 0.040 1.000 4 2009 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 2002 2009
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.730 1.000 4 2013 2018
dbSNP: rs974819
rs974819 		6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.820 1.000 4 2012 2018
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.030 1.000 3 2008 2011
dbSNP: rs10840293
rs10840293
SWAP70
2 1.000 0.040 11 9729649 intron variant G/A;C snv 0.700 1.000 3 2015 2018
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 3 2017 2018
dbSNP: rs10947789
rs10947789
KCNK5
2 0.925 0.080 6 39207146 intron variant T/C snv 0.18 0.810 1.000 3 2013 2018
dbSNP: rs11057830
rs11057830
SCARB1
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.710 1.000 3 2017 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.720 1.000 3 2010 2015
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.720 1.000 3 2014 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2002 2018