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: rs10502001
rs10502001
MMP7
1 1.000 0.040 11 102527862 missense variant C/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs522616
rs522616
MMP3
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs11466668
rs11466668
TNFRSF18
1 1.000 0.040 1 1207346 upstream gene variant G/T snv 5.7E-03 0.010 1.000 1 2014 2014
dbSNP: rs3753348
rs3753348
TNFRSF18
2 0.925 0.080 1 1208277 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2672794
rs2672794 		2 1.000 0.040 11 1219775 intron variant T/C snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs3748076
rs3748076
PHACTR2
1 1.000 0.040 6 143757963 intron variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs2290846
rs2290846
LRBA
3 1.000 0.040 4 150277928 missense variant G/A snv 0.20 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1059829
rs1059829
SPARC
1 1.000 0.040 5 151662468 3 prime UTR variant G/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1059279
rs1059279
SPARC
1 1.000 0.040 5 151662618 3 prime UTR variant A/C;T snv 0.14 0.010 1.000 1 2014 2014
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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