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: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
dbSNP: rs867830180
rs867830180
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
3 0.925 0.120 20 63695147 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs867329357
rs867329357
ERCC5 ; BIVM-ERCC5
3 0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs8177400
rs8177400
TIRAP
4 0.882 0.160 11 126292695 missense variant G/A;C;T snv 2.8E-03; 1.2E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs708486
rs708486
PTGDR
3 0.925 0.120 14 52274253 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs707824
rs707824
LOC101928354
3 0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs6676671
rs6676671
IL19
4 0.882 0.160 1 206779403 intron variant T/A snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
dbSNP: rs61756766
rs61756766
TNFRSF13C
9 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs535311760
rs535311760
TP73
3 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2004 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.070 1.000 7 2014 2019
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.020 1.000 2 2014 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2011 2011