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: rs16966671
rs16966671
CYBA ; MVD
1 1.000 0.040 16 88651867 upstream gene variant C/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1126772
rs1126772
SPP1
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs11728697
rs11728697
SPP1
2 0.925 0.080 4 87977789 non coding transcript exon variant C/T snv 0.54 0.46 0.010 1.000 1 2015 2015
dbSNP: rs2274554
rs2274554
RBM26
1 1.000 0.040 13 79366394 intron variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1667614
rs1667614
TET3 ; FNBP1P1
1 1.000 0.040 2 74121852 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2010 2010
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1020608562
rs1020608562
CCR5 ; CCR5AS
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2006 2006
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2006 2006
dbSNP: rs766662990
rs766662990
CCL5 ; LOC105371744
4 0.851 0.120 17 35878529 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1539019
rs1539019
NLRP3
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs2540438
rs2540438 		1 1.000 0.040 2 201485833 downstream gene variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2067051
rs2067051
MRPL23 ; H19 ; MIR675
3 0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41 0.010 1.000 1 2016 2016
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5368
rs5368
SELE ; C1orf112
4 0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11 0.010 1.000 1 2013 2013
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 0.010 1.000 1 2010 2010
dbSNP: rs1053411
rs1053411
SPARC
1 1.000 0.040 5 151663542 3 prime UTR variant G/C;T snv 0.21; 4.0E-06 0.010 1.000 1 2014 2014