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: rs1003421753
rs1003421753
IL12A ; IL12A-AS1
1 1.000 0.120 3 159989088 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1039312028
rs1039312028
BAX
1 1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1163350491
rs1163350491
OCM
1 1.000 0.120 7 5880922 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1185926926
rs1185926926
SLC19A1
1 1.000 0.120 21 45531748 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1250480918
rs1250480918
SLC19A1
1 1.000 0.120 21 45537803 synonymous variant G/A snv 4.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs13178127
rs13178127
XRCC4
1 1.000 0.120 5 83293613 intron variant A/G snv 3.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1320767909
rs1320767909
SLC19A1
1 1.000 0.120 21 45531982 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1335035506
rs1335035506
SHMT1
1 1.000 0.120 17 18340207 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1447708158
rs1447708158
RAF1
1 1.000 0.120 3 12604160 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs146713238
rs146713238
IL4 ; LOC105379176
1 1.000 0.120 5 132679861 missense variant G/A snv 3.2E-05 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs148701087
rs148701087
SHMT1 ; MIR6778
1 1.000 0.120 17 18340762 missense variant G/A snv 6.4E-04 8.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs150865017
rs150865017
ALDH1L1
1 1.000 0.120 3 126154627 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs16994592
rs16994592
CD70
1 1.000 0.120 19 6586487 intron variant T/C snv 9.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs17723799
rs17723799
MIR143 ; CARMN
1 1.000 0.120 5 149427514 non coding transcript exon variant C/T snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1785882
rs1785882
CARD16 ; LOC107984381
1 1.000 0.120 11 105052348 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs1790192
rs1790192
CXCR5
1 1.000 0.120 11 118886482 non coding transcript exon variant G/A;C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1800893
rs1800893
IL10 ; IL19
1 1.000 0.120 1 206773822 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1921310
rs1921310
TANK
1 1.000 0.120 2 161192690 intron variant A/G snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs2237060
rs2237060
RAD50 ; TH2LCRR
1 1.000 0.120 5 132635193 intron variant T/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs2582869
rs2582869
TNFSF13B
1 1.000 0.120 13 108259797 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2637988
rs2637988
IL1RN
1 1.000 0.120 2 113119202 intron variant G/A snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs2991216
rs2991216
SYK
1 1.000 0.120 9 90865745 intron variant A/G snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs441399
rs441399 		1 1.000 0.120 15 90822992 regulatory region variant G/A snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs4648022
rs4648022
NFKB1
1 1.000 0.120 4 102575280 intron variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs4934436
rs4934436 		1 1.000 0.120 10 89023563 intergenic variant C/T snv 0.60 0.010 1.000 1 2009 2009