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: rs201345298
rs201345298
PTPN6
1 1.000 0.120 12 6955413 missense variant C/A snv 3.8E-04 4.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs2272990
rs2272990
RIPK1
1 1.000 0.120 6 3076907 missense variant T/C;G snv 0.91 0.010 1.000 1 2010 2010
dbSNP: rs2523607
rs2523607
HLA-B ; MIR6891
1 1.000 0.120 6 31355013 non coding transcript exon variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs4733601
rs4733601 		1 1.000 0.120 8 128257220 TF binding site variant A/G snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs6773363
rs6773363 		1 1.000 0.120 3 27752141 intergenic variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs79464052
rs79464052
ARAP3
1 1.000 0.120 5 141655607 intron variant G/C snv 7.1E-02 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs10462020
rs10462020
PER3
2 0.925 0.160 1 7820623 missense variant T/G snv 0.17 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1227230819
rs1227230819
GDNF ; GDNF-AS1
2 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1239470707
rs1239470707
PPARG
2 0.925 0.120 3 12416785 missense variant C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1312391542
rs1312391542
PRDM1 ; ATG5
2 0.925 0.120 6 106104897 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs1390458638
rs1390458638
ABCB6
2 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1426981647
rs1426981647
CHEK2
2 0.925 0.200 22 28710038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1443292790
rs1443292790
CD79B
2 1.000 0.120 17 63929438 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs16978630
rs16978630
TNPO2
2 0.925 0.160 19 12702869 missense variant T/C;G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1880030
rs1880030
BCL7A
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs2070770
rs2070770
MS4A1
2 0.925 0.120 11 60463058 synonymous variant C/T snv 7.1E-02 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs2681416
rs2681416
CD86
2 0.925 0.120 3 122098766 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs3025684
rs3025684
CREBBP
2 1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15 0.010 1.000 1 2019 2019
dbSNP: rs3218674
rs3218674
ATM
2 1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 0.010 1.000 1 2002 2002
dbSNP: rs3813729
rs3813729
C1R ; C1RL
2 0.925 0.120 12 7089608 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs6773854
rs6773854
LOC105374265
2 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs758653954
rs758653954
EFS
2 0.925 0.120 14 23357350 frameshift variant -/C delins 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs770027749
rs770027749
XBP1
2 0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7712513
rs7712513
LOC101927357
2 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 0.700 1.000 1 2015 2015