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: rs1057519832
rs1057519832
PLCG2
1 1.000 0.120 16 81928578 missense variant A/C;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1041569
rs1041569
TNFSF13B
1 1.000 0.120 13 108267195 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1064796681
rs1064796681
TP53
1 1.000 0.120 17 7675091 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs11688943
rs11688943
PPIL3
1 1.000 0.120 2 200875545 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1278359106
rs1278359106
IRAK4
1 1.000 0.120 12 43777710 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1349826807
rs1349826807
KARS1 ; TERF2IP
1 1.000 0.120 16 75648280 missense variant G/A snv 7.9E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs143635917
rs143635917
POT1
1 1.000 0.120 7 124842843 missense variant T/C snv 4.5E-04 4.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs146850453
rs146850453
ARL11
1 1.000 0.120 13 49630937 missense variant G/A;C snv 3.7E-04; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs17676986
rs17676986
SND1 ; SND1-IT1 ; LOC105375492
1 1.000 0.120 7 127996905 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1776948
rs1776948
SLC23A2
1 1.000 0.120 20 4950467 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2147420
rs2147420
FAS
1 1.000 0.120 10 88999856 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2266690
rs2266690
CCNH
1 1.000 0.120 5 87399457 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs2307842
rs2307842
HSP90B1 ; C12orf73
1 1.000 0.120 12 103947867 3 prime UTR variant GACT/-;GACTGACT delins 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2466032
rs2466032
PCAT1 ; CASC19
1 1.000 0.120 8 127197575 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2705511
rs2705511
LOC112268446
1 1.000 0.120 3 112460632 downstream gene variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3136687
rs3136687
CCR7
1 1.000 0.120 17 40561644 intron variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs35748167
rs35748167 		1 1.000 0.120 18 60370200 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3805500
rs3805500
DROSHA
1 1.000 0.120 5 31462870 intron variant G/A snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs4505265
rs4505265
IL16
1 1.000 0.120 15 81185114 intron variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs6133175
rs6133175
SLC23A2
1 1.000 0.120 20 4911113 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
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