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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2285489
rs2285489
ADAMTS13
2 9 133424254 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs3921
rs3921
ART3 ; CXCL10
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs7656411
rs7656411
TLR2
8 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1800023
rs1800023
CCR5 ; CCR5AS
2 1.000 0.040 3 46370817 intron variant A/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2229094
rs2229094
LTA ; LOC100287329
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs724159946
rs724159946
ETV6
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs917927904
rs917927904
PTEN ; KLLN
2 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2014 2016
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 2016 2019
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2012 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2012 2015
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519802
rs1057519802
CSF1R
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057520014
rs1057520014
CSF1R
1 5 150073480 missense variant C/A snv 0.700 1.000 1 1990 1990
dbSNP: rs1114167651
rs1114167651
PTEN
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007