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: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2742038
rs2742038
TLX1 ; TLX1NB
3 0.882 0.120 10 101137330 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs11085721
rs11085721
DNMT1
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs750521832
rs750521832
MMP8
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs62527607
rs62527607
BAALC ; BAALC-AS2
5 0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
7 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 0.010 < 0.001 1 2018 2018
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 < 0.001 1 2018 2018
dbSNP: rs76996680
rs76996680
LEF1
3 0.882 0.120 4 108163665 missense variant G/A snv 1.0E-03 3.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.010 1.000 1 2006 2006
dbSNP: rs17069665
rs17069665
FOXO3
4 0.882 0.120 6 108620265 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs9400241
rs9400241
FOXO3
4 0.882 0.120 6 108682786 3 prime UTR variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs3776932
rs3776932
MAN2A1
1 1.000 0.120 5 109850287 intron variant T/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2012 2012
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 2016 2016