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: rs28897672
rs28897672
BRCA1
10 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.870 1.000 7 2004 2019
dbSNP: rs200928781
rs200928781
CHEK2
10 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.810 1.000 1 2002 2018
dbSNP: rs28897696
rs28897696
BRCA1
7 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.810 0.833 1 2002 2014
dbSNP: rs28897759
rs28897759
BRCA2
2 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.810 1.000 1 2014 2014
dbSNP: rs55770810
rs55770810
BRCA1
4 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.810 1.000 1 2004 2014
dbSNP: rs2981582
rs2981582
FGFR2
20 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.800 0.971 34 2007 2019
dbSNP: rs3803662
rs3803662
CASC16
24 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.800 0.950 33 2007 2019
dbSNP: rs2046210
rs2046210 		17 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.800 1.000 24 2009 2019
dbSNP: rs1219648
rs1219648
FGFR2
16 0.716 0.320 10 121586676 intron variant A/G;T snv 0.800 1.000 21 2007 2018
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 19 2006 2019
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
17 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.800 0.850 18 2007 2016
dbSNP: rs889312
rs889312 		13 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.800 0.952 18 2007 2017
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 17 2001 2016
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.800 1.000 16 2008 2016
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
15 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.800 1.000 16 2007 2016
dbSNP: rs3817198
rs3817198
LSP1
7 0.790 0.280 11 1887776 intron variant T/C snv 0.26 0.800 0.929 12 2007 2017
dbSNP: rs4973768
rs4973768
SLC4A7
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.800 1.000 11 2009 2019
dbSNP: rs2981578
rs2981578
FGFR2
2 0.925 0.080 10 121580797 intron variant C/A;T snv 0.790 0.909 9 2007 2018
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.790 1.000 9 2008 2018
dbSNP: rs1213469537
rs1213469537
CAV1
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.780 1.000 8 2002 2013
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
6 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
3 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.770 1.000 7 2010 2017
dbSNP: rs11249433
rs11249433
EMBP1
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.778 7 2009 2016
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: rs12443621
rs12443621
TOX3
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.770 0.875 7 2007 2016