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: 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: 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: rs2857597
rs2857597
AIF1
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs3115667
rs3115667 		3 0.882 0.200 6 31675622 downstream gene variant T/A;C snv 0.74 0.010 1.000 1 2011 2011
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: rs10190751
rs10190751
CFLAR ; CFLAR-AS1
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1056503
rs1056503
XRCC4
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2014 2014
dbSNP: rs13254990
rs13254990
PVT1
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2621416
rs2621416 		4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4938573
rs4938573 		4 0.851 0.280 11 118871133 regulatory region variant C/T snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2013 2013
dbSNP: rs1392080411
rs1392080411
KLF2
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4937362
rs4937362
LOC105369568
5 0.827 0.240 11 128622844 intron variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs6932542
rs6932542 		5 0.827 0.200 6 32412485 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.770 1.000 7 2010 2014
dbSNP: rs6457327
rs6457327 		7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
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: 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: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009