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: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2853677
rs2853677
TERT
15 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
14 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs564398
rs564398
CDKN2B-AS1
13 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.010 1.000 1 2011 2011
dbSNP: rs115658307
rs115658307
APC
1 1.000 0.040 5 112707537 5 prime UTR variant C/T snv 4.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs138386816
rs138386816
APC
1 1.000 0.040 5 112707566 5 prime UTR variant C/T snv 7.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
19 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2013
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2010 2010
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010
dbSNP: rs2736098
rs2736098
TERT
46 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 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: rs121913459
rs121913459
ABL1
23 0.672 0.160 9 130872896 missense variant C/T snv 0.100 1.000 18 2004 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
181 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 1.000 10 2006 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 1.000 7 2001 2016
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.050 1.000 5 2007 2010
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2011 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2011 2018