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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2016 2016
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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 < 0.001 1 2016 2016
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: 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: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.010 1.000 1 2006 2006
dbSNP: rs587776834
rs587776834
FLT3
1 1.000 0.120 13 28034140 inframe deletion TCA/- delins 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: 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: 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
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
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: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.050 0.800 5 2007 2015
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.050 1.000 5 2014 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: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2010 2015
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.030 1.000 3 2008 2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2009 2012
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2008 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2002 2013
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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2008 2019
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.030 1.000 3 2014 2017