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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2015
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.820 1.000 4 2009 2019
dbSNP: rs7089424
rs7089424
ARID5B
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.800 1.000 2 2009 2018
dbSNP: rs12669559
rs12669559
IKZF1
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2013 2013
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs6479778
rs6479778
ARID5B
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2167364
rs2167364
DDC ; FIGNL1
1 1.000 0.120 7 50498129 intron variant T/C snv 0.30 0.800 1.000 2 2012 2013
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 2019
dbSNP: rs540476365
rs540476365
SETD2
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs1037351
rs1037351
DDC ; FIGNL1
1 1.000 0.120 7 50497706 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs12719039
rs12719039
IKZF1
1 1.000 0.120 7 50351251 intron variant T/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs149940960
rs149940960
GREB1
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs1569175
rs1569175 		1 1.000 0.120 2 200157231 intergenic variant T/C snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2290400
rs2290400
GSDMB
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs3781093
rs3781093
GATA3
3 0.882 0.120 10 8059964 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs3887825
rs3887825
DDC ; FIGNL1
2 1.000 0.120 7 50477395 intron variant T/C snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs408626
rs408626
DHFR ; MSH3
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs4245555
rs4245555
GRB10
3 1.000 0.120 7 50593712 intron variant T/C snv 0.32 0.700 1.000 1 2013 2013