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: 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 0.020 1.000 2 2016 2018
dbSNP: rs72846714
rs72846714
NT5C2
1 1.000 0.120 10 103118697 intron variant G/A snv 0.15 0.010 < 0.001 1 2018 2018
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 2014 2014
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2014 2014
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: 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: 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 0.030 1.000 3 2016 2019
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2012 2012
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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
dbSNP: rs200890679
rs200890679
MTHFR
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.010 1.000 1 2008 2008