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: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.040 1.000 4 2005 2009
dbSNP: rs11249433
rs11249433
EMBP1
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 1 2014 2017
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 < 0.001 1 2016 2016
dbSNP: rs121909218
rs121909218
PTEN
12 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs1239905891
rs1239905891
IGF1
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs13283662
rs13283662
UHRF2
4 0.925 0.080 9 6428530 intron variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1389945622
rs1389945622
MLH1 ; EPM2AIP1
1 3 36993560 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
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: rs17849781
rs17849781
TP53
8 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
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: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
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: 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: rs3803662
rs3803662
CASC16
24 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs4784227
rs4784227
CASC16
6 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 < 0.001 1 2016 2016
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: rs587779003
rs587779003
MLH1
1 3 37004401 missense variant G/A;C snv 0.010 1.000 1 2011 2011