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: rs1239105602
rs1239105602
PTEN ; KLLN
2 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: rs2285489
rs2285489
ADAMTS13
2 9 133424254 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
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: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2006 2006
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs5743551
rs5743551
TLR1
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.010 1.000 1 2017 2017
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 2004 2004
dbSNP: rs757333753
rs757333753
RAF1
6 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs757874631
rs757874631
CBL
4 0.882 0.120 11 119278211 missense variant T/A;C snv 0.010 1.000 1 2012 2012
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: rs767464424
rs767464424
CEBPZ
3 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs770692189
rs770692189
BCL2L11 ; MIR4435-2HG
2 1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs777017502
rs777017502
CEBPZ
3 0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs779530981
rs779530981
PTEN
4 1.000 0.160 10 87933035 missense variant C/A snv 0.010 1.000 1 2007 2007