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: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs13124532
rs13124532
PDE5A ; LOC645513
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1362970
rs1362970
NTN4 ; PGAM1P5
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2017
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs11102930
rs11102930
NGF ; NGF-AS1
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs12537
rs12537
MTMR3 ; HORMAD2-AS1
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015
dbSNP: rs1056654
rs1056654
MPHOSPH6
2 0.925 0.160 16 82148406 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1056675
rs1056675
MPHOSPH6
2 0.925 0.160 16 82148329 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2015
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs2364480
rs2364480
LTBR
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs3759334
rs3759334
LTBR
2 0.925 0.120 12 6382842 intron variant G/A snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3796283
rs3796283
LPP
4 0.851 0.200 3 188885163 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12022418
rs12022418
LOC105371664
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs7190997
rs7190997
ITGAX
2 1.000 0.120 16 31356857 intron variant T/C snv 0.52 0.710 1.000 2 2015 2019
dbSNP: rs11150619
rs11150619
ITGAX
2 0.925 0.160 16 31365528 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs11574637
rs11574637
ITGAX
3 0.882 0.200 16 31357553 missense variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs4597342
rs4597342
ITGAM
2 0.925 0.160 16 31332448 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2017 2017