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: rs121913483
rs121913483
FGFR3
14 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.820 1.000 2 1999 2019
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 1.000 11 2009 2019
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 7 2010 2017
dbSNP: rs9642880
rs9642880
CASC11
8 0.776 0.240 8 127705823 intron variant G/A;T snv 0.760 1.000 6 2008 2015
dbSNP: rs710521
rs710521 		3 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 0.740 1.000 4 2008 2018
dbSNP: rs11892031
rs11892031
UGT1A10 ; UGT1A8
3 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 3 2010 2015
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.730 1.000 3 2011 2014
dbSNP: rs1014971
rs1014971 		3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.720 1.000 2 2010 2016
dbSNP: rs10936599
rs10936599
MYNN
18 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.720 1.000 2 2014 2019
dbSNP: rs1495741
rs1495741 		6 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.720 1.000 2 2010 2016
dbSNP: rs8102137
rs8102137 		3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 2 2010 2014
dbSNP: rs10775480
rs10775480
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 1 2011 2014
dbSNP: rs401681
rs401681
CLPTM1L
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.710 0.667 1 2010 2014
dbSNP: rs62185668
rs62185668 		3 0.925 0.120 20 10981287 intron variant C/A snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.100 1.000 10 2006 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2010 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 1.000 8 2007 2014
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.080 1.000 8 2001 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.080 0.875 8 2007 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013