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: rs2294008
rs2294008
PSCA ; JRK
27 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.800 0.971 31 2009 2019
dbSNP: rs4072037
rs4072037
MUC1
16 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.800 1.000 16 2010 2018
dbSNP: rs13361707
rs13361707
PRKAA1
6 0.882 0.120 5 40791782 intron variant C/T snv 0.31 0.780 1.000 8 2011 2018
dbSNP: rs10074991
rs10074991
PRKAA1
5 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.720 1.000 2 2014 2018
dbSNP: rs746481984
rs746481984
CDH1
4 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.720 1.000 2 2016 2018
dbSNP: rs9841504
rs9841504
ZBTB20
6 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 2 2011 2016
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 1987 2004
dbSNP: rs3781264
rs3781264
PLCE1
3 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.710 1.000 1 2010 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.870 23 2005 2018
dbSNP: rs2274223
rs2274223
PLCE1
39 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.100 1.000 16 2010 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.750 16 2002 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.100 0.733 15 2010 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.786 14 2001 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.100 0.857 14 2012 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.833 12 2005 2014
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.100 0.833 12 2012 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.100 0.909 11 2009 2019
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 1.000 11 2007 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.900 10 2009 2015
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
110 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.100 0.700 10 2010 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 1.000 10 2005 2016
dbSNP: rs763780
rs763780
IL17F
86 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.100 0.700 10 2014 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.090 0.778 9 2011 2018
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 2009 2015
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 0.875 8 2011 2016