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: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.780 0.875 8 1998 2016
dbSNP: rs10995190
rs10995190
ZNF365
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.770 1.000 10 2010 2017
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.778 9 2009 2016
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.770 1.000 9 2007 2017
dbSNP: rs6504950
rs6504950
STXBP4
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.770 0.889 9 2009 2017
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.770 0.889 9 2009 2016
dbSNP: rs12443621
rs12443621
TOX3
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.770 0.875 8 2007 2016
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.770 1.000 8 2010 2020
dbSNP: rs8051542
rs8051542
TOX3
2 0.925 0.080 16 52500255 intron variant T/C snv 0.61 0.770 0.875 8 2007 2019
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.770 1.000 7 2008 2019
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.760 1.000 9 2000 2013
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.760 1.000 7 2006 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.750 1.000 8 2011 2019
dbSNP: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.750 1.000 7 2012 2016
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.750 0.833 6 2010 2014
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 5 2011 2018
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.740 0.958 24 1994 2017
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.740 1.000 7 2009 2017
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.740 1.000 6 2010 2015
dbSNP: rs3757318
rs3757318
CCDC170
3 0.882 0.160 6 151592978 intron variant G/A snv 6.1E-02 0.740 1.000 6 2013 2015
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.800 5 2013 2016
dbSNP: rs1292011
rs1292011
LOC105370003
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.740 1.000 5 2012 2015
dbSNP: rs2180341
rs2180341
RNF146
3 0.882 0.160 6 127279485 intron variant G/A snv 0.73 0.740 0.800 5 2008 2012
dbSNP: rs865686
rs865686
LOC105376214
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.740 1.000 5 2011 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 4 2011 2020