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: rs121909646
rs121909646
FLT3
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 0
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
dbSNP: rs587776834
rs587776834
FLT3
1 1.000 0.120 13 28034140 inframe deletion TCA/- delins 0.700 0
dbSNP: rs587782545
rs587782545
NBN
4 0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs730881864
rs730881864
NBN
4 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs767215758
rs767215758
NBN
4 0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs767454740
rs767454740
NBN
4 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 0
dbSNP: rs786205154
rs786205154
ETV6
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2016 2016
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 < 0.001 1 2011 2011
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 < 0.001 1 2017 2017
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs4958351
rs4958351
GRIA1
3 0.882 0.120 5 153790814 intron variant G/A;T snv 0.31 0.010 < 0.001 1 2015 2015
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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 < 0.001 1 2016 2016
dbSNP: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2013 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.667 6 2003 2019
dbSNP: rs10994982
rs10994982
ARID5B
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.030 0.667 3 2014 2019
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.050 0.800 5 2007 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.935 46 2001 2019