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: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs611646
rs611646
ATM
3 0.882 0.120 11 108306370 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs74911261
rs74911261
POGLUT3
4 0.882 0.160 11 108486410 missense variant G/A snv 1.6E-02 1.6E-02 0.710 1.000 1 2017 2017
dbSNP: rs1416313401
rs1416313401
SYBU
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs333951
rs333951
CSF1
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs2050462
rs2050462
CSF1
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
MTOR
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs587777894
rs587777894
MTOR
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2014 2014
dbSNP: rs1057519913
rs1057519913
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs786205165
rs786205165
MTOR
4 0.882 0.120 1 11157173 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2010 2010
dbSNP: rs1982809
rs1982809
BTLA ; LOC112268446
3 0.882 0.200 3 112463893 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3783550
rs3783550
IL1A
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3783546
rs3783546
IL1A
5 0.882 0.160 2 112777253 intron variant G/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1609682
rs1609682
IL1A
3 0.882 0.160 2 112782628 intron variant G/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3783521
rs3783521
IL1A
8 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 0.010 1.000 1 2017 2017