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: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
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: 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: 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: rs11249433
rs11249433
EMBP1
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2012 2016
dbSNP: rs760043106
rs760043106
TP53
16 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs2273535
rs2273535
AURKA
37 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs41293463
rs41293463
BRCA1
6 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs7716600
rs7716600 		4 0.925 0.080 5 44874903 regulatory region variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.040 1.000 4 2005 2009
dbSNP: rs1462893414
rs1462893414
ESR1
5 0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2007
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
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: 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: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
3 0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 4 2004 2016
dbSNP: rs1136201
rs1136201
ERBB2
33 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs747489687
rs747489687
MCPH1
4 0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 0.010 1.000 1 2019 2019
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: 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: rs121912664
rs121912664
TP53
40 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 1 2013 2013