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 0.100 0.833 48 2003 2020
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.833 42 2003 2018
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.100 0.895 38 2000 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.800 1.000 25 2007 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.100 0.727 22 2003 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.950 20 2007 2019
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.100 0.800 20 2004 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.842 19 2004 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 19 2003 2017
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.100 0.882 17 2004 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.100 1.000 16 2006 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.100 0.733 15 2007 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.769 13 2003 2015
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.100 0.750 12 2004 2018
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.818 11 2009 2017
dbSNP: rs2981578
rs2981578
FGFR2
2 0.925 0.080 10 121580797 intron variant C/A;T snv 0.790 0.909 11 2009 2018
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.100 0.818 11 2004 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.100 0.800 10 2009 2019
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.090 0.889 9 2004 2018
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.090 0.667 9 2002 2014
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.090 0.889 9 2008 2018
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.080 0.500 8 2006 2012
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.080 1.000 8 2004 2010