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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2010 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2005 2008
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2010 2013
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013
dbSNP: rs3784262
rs3784262
ALDH1A2
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.710 1.000 2 2013 2015
dbSNP: rs10108511
rs10108511
LINC00208
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1059536
rs1059536
HLA-A
3 1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs17625898
rs17625898
FLT1
1 1.000 0.080 13 28358693 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
dbSNP: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2236302
rs2236302
MMP14
1 1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2687201
rs2687201 		6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3127075
rs3127075
CASP7
1 1.000 0.080 10 113712354 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs62423175
rs62423175 		2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs7255
rs7255
GDF7
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008