Source: BEFREE ×
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 < 0.001 2 2012 2016
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1430693582
rs1430693582
ERCC5 ; BIVM-ERCC5
1 1.000 0.040 13 102862707 synonymous variant A/C snv 1.2E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs1431156021
rs1431156021
DNMT3A
2 0.925 0.120 2 25243904 missense variant C/T snv 0.010 < 0.001 1 2017 2017
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: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 < 0.001 1 2016 2016
dbSNP: rs200945282
rs200945282
KIT
3 0.882 0.160 4 54727462 missense variant G/T snv 1.8E-04 8.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs35602083
rs35602083
FLT3
4 0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02 0.010 < 0.001 1 2006 2006
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: 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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.750 4 2006 2013
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.040 0.750 4 2010 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
103 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2011 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2006 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2003 2019
dbSNP: rs121913500
rs121913500
IDH1
83 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 6 2009 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
181 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 21 2005 2019
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.100 1.000 13 2011 2018
dbSNP: rs147001633
rs147001633
DNMT3A
9 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.800 1.000 12 2010 2019
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682
KIT
51 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019