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: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1060500764
rs1060500764
SMAD3
1 1.000 0.080 15 67181363 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1430059719
rs1430059719
MMP9
1 1.000 0.080 20 46012456 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs17886084
rs17886084
MMP1 ; WTAPP1
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs267607117
rs267607117
TMEM67
2 0.925 0.080 8 93780747 missense variant G/T snv 0.010 1.000 1 2009 2009
dbSNP: rs5496
rs5496
ICAM1
1 1.000 0.080 19 10284771 intron variant G/A snv 7.8E-03 3.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs781521972
rs781521972
SMAD2
1 1.000 0.080 18 47896706 synonymous variant T/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs900837802
rs900837802
EIF2AK3
1 1.000 0.080 2 88595498 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs9402373
rs9402373 		1 1.000 0.080 6 131956291 intron variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1063303
rs1063303
TRIM22 ; TRIM5
2 0.925 0.120 11 5698520 missense variant G/A;C;T snv 4.0E-06; 0.50; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs13412852
rs13412852
LPIN1
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs3741981
rs3741981
OAS1
3 0.882 0.120 12 112911065 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4619915
rs4619915
ART3 ; CXCL11
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.020 1.000 2 2016 2017
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs14158
rs14158
LDLR
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2018
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs11558492
rs11558492
GNPAT
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17047200
rs17047200
TLL1
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2017 2017