Gene: BRCA1 ×
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: rs876659327
rs876659327
BRCA1
4 0.882 0.200 17 43094390 frameshift variant -/C delins 0.700 0
dbSNP: rs431825390
rs431825390
BRCA1
3 0.925 0.080 17 43093198 frameshift variant -/CA delins 4.0E-06 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.710 < 0.001 1 2019 2019
dbSNP: rs387906563
rs387906563
BRCA1
4 0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs80357729
rs80357729
BRCA1
5 0.851 0.200 17 43091903 frameshift variant -/T delins 8.0E-06 0.700 0
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
6 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs80357902
rs80357902
BRCA1
4 0.882 0.200 17 43091882 frameshift variant -/T delins 4.0E-06; 8.4E-05; 4.0E-06 0.700 0
dbSNP: rs397509312
rs397509312
BRCA1
3 0.882 0.200 17 43094794 frameshift variant A/- delins 0.700 0
dbSNP: rs80357720
rs80357720
BRCA1
3 0.925 0.080 17 43063876 frameshift variant A/- delins 0.700 0
dbSNP: rs80357929
rs80357929
BRCA1
4 0.851 0.200 17 43092663 frameshift variant A/- del 0.700 0
dbSNP: rs886039958
rs886039958
BRCA1
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.010 1.000 1 2007 2007
dbSNP: rs397508869
rs397508869
BRCA1
1 1.000 0.080 17 43094138 missense variant A/C snv 0.700 1.000 25 1994 2017
dbSNP: rs190900046
rs190900046
BRCA1
5 0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs431825416
rs431825416
BRCA1
2 0.925 0.080 17 43051093 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs80358061
rs80358061
BRCA1
4 0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs397508994
rs397508994
BRCA1
2 0.925 0.080 17 43092856 stop gained A/C;G snv 0.700 1.000 25 1994 2017
dbSNP: rs587782190
rs587782190
BRCA1
3 0.882 0.200 17 43091731 stop gained A/C;G snv 7.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs80357061
rs80357061
BRCA1
4 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 20 1994 2017
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 20 1994 2017
dbSNP: rs397507242
rs397507242
BRCA1
2 0.925 0.080 17 43063912 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.710 1.000 1 2007 2007
dbSNP: rs28897675
rs28897675
BRCA1
1 1.000 0.080 17 43094795 missense variant A/C;G snv 3.1E-04 2.6E-04 0.700 0
dbSNP: rs28897687
rs28897687
BRCA1
1 1.000 0.080 17 43091823 missense variant A/C;G snv 2.6E-04 3.1E-04 0.700 0
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
3 0.925 0.080 17 43124044 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017