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: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 < 0.001 1 2008 2008
dbSNP: rs2266690
rs2266690
CCNH
1 1.000 0.120 5 87399457 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3136687
rs3136687
CCR7
1 1.000 0.120 17 40561644 intron variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs4505265
rs4505265
IL16
1 1.000 0.120 15 81185114 intron variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1800561
rs1800561
CD38
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs11083846
rs11083846
PRKD2
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.830 1.000 3 2008 2010
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: 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: 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: 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 2012
dbSNP: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.820 1.000 3 2010 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2009 2012