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: rs587781386
rs587781386
TP53
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
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: rs12717
rs12717
PSMB1 ; TBP
2 0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38 0.010 1.000 1 2017 2017
dbSNP: rs17749561
rs17749561 		2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 0.010 1.000 1 2014 2014
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: 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: rs6444305
rs6444305
LPP
2 0.925 0.120 3 188582114 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
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: rs587776632
rs587776632
BCL10
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
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: 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: rs4760655
rs4760655
VDR
1 1.000 0.120 12 47900348 intron variant G/A snv 0.72 0.010 < 0.001 1 2011 2011