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: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2267641
rs2267641
DDR1
2 0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18 0.010 1.000 1 2010 2010
dbSNP: rs4618569
rs4618569
DDR1
2 0.925 0.040 6 30887474 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs4744411
rs4744411
AOPEP ; LOC101928119
3 0.925 0.040 9 94926763 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6960920
rs6960920 		3 0.925 0.040 7 44376473 downstream gene variant G/C;T snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs71453838
rs71453838
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant AA/GC mnv 0.010 1.000 1 2010 2010
dbSNP: rs734930
rs734930
AUTS2
3 0.925 0.040 7 70555174 intron variant T/C snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs7758128
rs7758128
TSBP1-AS1
3 0.882 0.040 6 32377506 intron variant C/A;T snv 4.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.020 1.000 2 2011 2012
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2012 2012
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2013 2013
dbSNP: rs10876864
rs10876864
IKZF4
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 < 0.001 1 2013 2013