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: rs746910913
rs746910913
MDM2
1 1.000 0.120 12 68839310 frameshift variant C/-;CC delins 0.010 1.000 1 2019 2019
dbSNP: rs8113877
rs8113877 		1 1.000 0.120 20 46006406 upstream gene variant G/T snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs9288953
rs9288953
BTLA
1 1.000 0.120 3 112484405 intron variant C/T snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs9611280
rs9611280
TNRC6B
1 1.000 0.120 22 40156115 missense variant G/A;T snv 6.8E-02; 5.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs369203092
rs369203092
ATM
1 1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs371713984
rs371713984
ATM
1 1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs567060474
rs567060474
ATM ; C11orf65
1 1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04 0.700 0
dbSNP: rs210142
rs210142
BAK1 ; GGNBP1
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs35923643
rs35923643
GRAMD1B
3 0.925 0.120 11 123484683 intron variant A/G snv 0.15 0.710 1.000 3 2016 2018
dbSNP: rs8024033
rs8024033 		2 0.925 0.120 15 40111456 upstream gene variant C/G snv 0.50 0.800 1.000 3 2013 2017
dbSNP: rs1036935
rs1036935 		2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs1044873
rs1044873
IRF8
2 0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40 0.810 1.000 2 2013 2014
dbSNP: rs1359742
rs1359742 		2 0.925 0.120 9 22336997 intergenic variant G/C;T snv 0.800 1.000 2 2013 2016
dbSNP: rs2003869
rs2003869
LEF1
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs2511714
rs2511714 		2 0.925 0.120 8 102566646 regulatory region variant T/G snv 0.41 0.800 1.000 2 2013 2016
dbSNP: rs2521269
rs2521269
TSPAN32 ; C11orf21
2 0.925 0.120 11 2299865 intron variant C/A;T snv 0.800 1.000 2 2013 2016
dbSNP: rs3770745
rs3770745
QPCT
2 0.925 0.120 2 37368946 intron variant C/T snv 0.43 0.800 1.000 2 2013 2016
dbSNP: rs391855
rs391855 		2 0.925 0.120 16 85895015 upstream gene variant A/T snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs4368253
rs4368253 		2 0.925 0.120 18 59955055 TF binding site variant T/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs4406737
rs4406737
FAS
2 0.925 0.120 10 88999967 intron variant A/G snv 0.50 0.800 1.000 2 2013 2016
dbSNP: rs4987856
rs4987856
BCL2
2 0.925 0.120 18 63126261 3 prime UTR variant C/T snv 6.0E-02 0.800 1.000 2 2013 2016
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111074216 intron variant T/C snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs7169431
rs7169431 		2 0.925 0.200 15 56048698 intergenic variant A/G;T snv 0.720 1.000 2 2010 2010
dbSNP: rs7578199
rs7578199
HDLBP
2 0.925 0.120 2 241253433 missense variant T/C;G snv 0.19; 8.4E-05 0.800 1.000 2 2013 2016
dbSNP: rs11636802
rs11636802
LOC105370831
2 0.925 0.120 15 56483399 intergenic variant A/G snv 8.0E-02 0.800 1.000 1 2013 2013