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: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs9514828
rs9514828
TNFSF13B
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs9380516
rs9380516 		2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.800 1.000 1 2012 2012
dbSNP: rs910049
rs910049
TSBP1 ; TSBP1-AS1
8 0.776 0.400 6 32347950 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs887304
rs887304
CRACR2A
2 0.925 0.080 12 3648382 3 prime UTR variant T/C snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs886277
rs886277
TRPM5
1 1.000 0.080 11 2418537 missense variant T/C snv 0.44 0.47 0.010 1.000 1 2013 2013
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.030 0.667 3 2012 2017
dbSNP: rs8021276
rs8021276 		2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2012 2020
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2015
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2015 2015
dbSNP: rs767864210
rs767864210
PDLIM5
3 0.882 0.120 4 94657500 missense variant G/A;T snv 8.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs7664413
rs7664413
VEGFC ; LOC105377555
7 0.851 0.160 4 176687553 intron variant C/T snv 0.24 0.25 0.010 1.000 1 2014 2014
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2013 2013
dbSNP: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs755284374
rs755284374
HFE
3 0.882 0.120 6 26093122 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7536540
rs7536540
JAK1 ; MIR101-1 ; MIR3671
3 0.882 0.160 1 65058899 intron variant C/G;T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs747432300
rs747432300
GPT ; LOC101928953
2 0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04 0.010 1.000 1 2009 2009