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: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.080 1.000 8 2013 2019
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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.800 1.000 2 2013 2019
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: rs1679013
rs1679013 		3 0.882 0.160 9 22206988 intron variant C/A;T snv 0.43 0.800 1.000 2 2013 2017
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: 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: 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: rs1050976
rs1050976
IRF4
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2013 2013
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
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: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs2072135
rs2072135
OAS3
2 0.925 0.120 12 112961374 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
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: rs2292982
rs2292982
IRF8
3 1.000 0.120 16 85911217 intron variant T/C;G snv 0.700 1.000 1 2013 2013
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: rs2466035
rs2466035
PCAT1 ; CASC19
2 0.925 0.120 8 127198984 intron variant T/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs35748167
rs35748167 		1 1.000 0.120 18 60370200 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3769825
rs3769825
CASP8
2 0.925 0.120 2 201246657 intron variant A/G snv 0.46 0.800 1.000 1 2013 2013