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: rs6906021
rs6906021
HLA-DQB1-AS1
6 0.827 0.320 6 32658534 upstream gene variant T/C snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2015 2015
dbSNP: rs10783618
rs10783618
HOXC11 ; HOTAIR
1 1.000 0.160 12 53971491 intron variant T/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2000 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2007 2007
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs3819024
rs3819024
IL17A
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs7747909
rs7747909
IL17A
7 0.790 0.320 6 52189451 3 prime UTR variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1343151
rs1343151
IL23R
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 < 0.001 1 2010 2010
dbSNP: rs7025417
rs7025417
IL33 ; LOC107987046
11 0.752 0.280 9 6240084 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2227284
rs2227284
IL4
12 0.732 0.480 5 132677033 intron variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 < 0.001 1 2014 2014
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2008 2008
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2008 2008
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2002 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2007
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2003 2003