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: rs2848479
rs2848479 		1 1.000 0.200 11 98216871 intergenic variant C/T snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2848713
rs2848713 		1 1.000 0.200 6 31416702 intron variant G/A snv 5.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs6845297
rs6845297 		1 1.000 0.200 4 74393688 downstream gene variant G/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs6910516
rs6910516 		1 1.000 0.200 6 31376050 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs6933050
rs6933050 		5 0.925 0.200 6 31375855 non coding transcript exon variant T/C snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs6937506
rs6937506 		7 0.807 0.280 6 132578260 intergenic variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs76546355
rs76546355 		2 0.925 0.200 6 31381371 downstream gene variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs7775759
rs7775759 		6 0.925 0.200 6 31384669 upstream gene variant G/A snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs913678
rs913678 		6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs9266490
rs9266490 		1 1.000 0.200 6 31372381 intron variant A/G snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs9380217
rs9380217 		1 1.000 0.200 6 31083776 downstream gene variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2014
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 2012 2012
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs146597836
rs146597836
ADA2
1 1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs750868279
rs750868279
ADA2
1 1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs855873
rs855873
AIM2
1 1.000 0.200 1 159077922 intron variant A/G snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs4703863
rs4703863
ATG10
2 0.925 0.280 5 81980204 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs573775
rs573775
ATG5
4 0.851 0.320 6 106316991 intron variant G/A snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs11755527
rs11755527
BACH2
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs12212193
rs12212193
BACH2
2 0.925 0.280 6 90287050 intron variant A/G snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs2474619
rs2474619
BACH2
3 0.882 0.360 6 90170316 intron variant C/A snv 0.72 0.010 < 0.001 1 2015 2015
dbSNP: rs3757247
rs3757247
BACH2
5 0.827 0.320 6 90247744 intron variant C/T snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs408290
rs408290
C3
1 1.000 0.200 19 6702011 intron variant G/C;T snv 0.010 1.000 1 2015 2015