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: rs11540654
rs11540654
TP53
1 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs121909229
rs121909229
PTEN
1 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 1 2016 2016
dbSNP: rs121913292
rs121913292
PTEN
1 1.000 0.080 10 87933148 frameshift variant G/- del 0.010 1.000 1 2016 2016
dbSNP: rs1389945622
rs1389945622
MLH1 ; EPM2AIP1
1 3 36993560 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs146312682
rs146312682
LIMD1
1 3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1704754
rs1704754
HSD17B7
1 1 162790761 5 prime UTR variant C/T snv 0.70 0.62 0.010 1.000 1 2014 2014
dbSNP: rs201498575
rs201498575
EGFR
1 7 55165359 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs28934874
rs28934874
TP53
1 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs555016384
rs555016384
CCR6
1 6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs55680408
rs55680408
BRCA1
1 17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs587779003
rs587779003
MLH1
1 3 37004401 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs587782137
rs587782137
BRCA2
1 13 32316471 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs730881360
rs730881360
ATM
1 11 108227629 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs80357034
rs80357034
BRCA1
1 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs80357635
rs80357635
BRCA1
1 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs57374291
rs57374291
PTEN
2 1.000 0.080 10 87933078 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750624
rs63750624
MSH2
2 0.925 0.160 2 47410211 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs7984952
rs7984952
USPL1
2 13 30657669 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2013 2013
dbSNP: rs1239905891
rs1239905891
IGF1
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1675126
rs1675126
INCENP
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015
dbSNP: rs17506395
rs17506395
TP63
3 0.925 0.080 3 189803530 intron variant T/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1972820
rs1972820
ERBB4
3 0.925 0.080 2 211378697 3 prime UTR variant G/A snv 0.63 0.010 < 0.001 1 2018 2018
dbSNP: rs2787486
rs2787486
STXBP4
3 0.925 0.080 17 55132413 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs35490896
rs35490896
CLSPN
3 0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs777081311
rs777081311
ERBB2
3 0.925 0.080 17 39710347 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017