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: rs587776637
rs587776637
BCL10
1 1.000 0.120 1 85267692 inframe deletion TCT/- delins 0.700 0
dbSNP: rs3789068
rs3789068
BCL2L11 ; MIR4435-2HG
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2014
dbSNP: rs3763313
rs3763313
BTNL2
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs172378
rs172378
C1QA
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs10190751
rs10190751
CFLAR ; CFLAR-AS1
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs2855429
rs2855429
COL11A2
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs3212961
rs3212961
ERCC1
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs3020314
rs3020314
ESR1
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs372411058
rs372411058
FCGR3B
1 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs3117222
rs3117222
HLA-DPA2
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.720 1.000 2 2012 2014
dbSNP: rs9274614
rs9274614
HLA-DQB1
1 1.000 0.120 6 32668069 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs28605404
rs28605404
HLA-DRB1
1 1.000 0.120 6 32601910 intergenic variant A/G snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs28530648
rs28530648
HLA-DRB6
1 1.000 0.120 6 32559302 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011