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: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs6054706
rs6054706 		1 1.000 0.120 20 149223 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs8094402
rs8094402
MBP
3 0.882 0.120 18 76995493 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2012 2014
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: 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: rs1159838942
rs1159838942
RAG1
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs13198610
rs13198610 		1 1.000 0.120 6 32457895 downstream gene variant G/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs1493202
rs1493202
XKR9
1 1.000 0.120 8 70993352 intron variant T/G snv 0.41 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: 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: rs28895078
rs28895078 		1 1.000 0.120 6 32450114 intergenic variant C/A;G snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895103
rs28895103 		1 1.000 0.120 6 32451687 intergenic variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895171
rs28895171 		1 1.000 0.120 6 32455244 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895187
rs28895187 		1 1.000 0.120 6 32456603 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2894253
rs2894253
TSBP1-AS1
1 1.000 0.120 6 32377763 intron variant T/G snv 1.0E-01 0.700 1.000 1 2012 2012
dbSNP: rs35571839
rs35571839 		1 1.000 0.120 6 32544836 intergenic variant C/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs35998847
rs35998847 		1 1.000 0.120 6 32699220 intergenic variant G/A snv 0.14 0.700 1.000 1 2012 2012
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: 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: rs9275245
rs9275245 		2 0.925 0.160 6 32693166 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9275517
rs9275517
MTCO3P1
2 0.925 0.200 6 32706872 non coding transcript exon variant A/G snv 0.58 0.710 < 0.001 1 2012 2012
dbSNP: rs2647012
rs2647012 		7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.740 0.750 4 2011 2014
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: 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