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: rs2456449
rs2456449
PCAT1 ; CASC19
5 0.827 0.280 8 127180736 intron variant A/G snv 0.30 0.720 1.000 2 2010 2010
dbSNP: rs7169431
rs7169431 		2 0.925 0.200 15 56048698 intergenic variant A/G;T snv 0.720 1.000 2 2010 2010
dbSNP: rs11668878
rs11668878
FKRP
2 0.925 0.200 19 46765116 intron variant G/T snv 5.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs1036935
rs1036935 		2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2011 2011
dbSNP: rs391525
rs391525
IRF8
3 0.882 0.200 16 85910833 intron variant A/G;T snv 0.35 0.800 1.000 2 2011 2012
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2011 2011
dbSNP: rs1494555
rs1494555
IL7R
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 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
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: rs674313
rs674313 		2 0.925 0.120 6 32610305 intergenic variant C/T snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs783540
rs783540
CPEB1
2 0.925 0.160 15 82585958 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs8113877
rs8113877 		1 1.000 0.120 20 46006406 upstream gene variant G/T snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs9272535
rs9272535
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
7 0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03 0.800 1.000 1 2011 2011
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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2019
dbSNP: rs210142
rs210142
BAK1 ; GGNBP1
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs9378805
rs9378805 		4 0.851 0.280 6 417727 intergenic variant A/C snv 0.36 0.700 1.000 1 2012 2012