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: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 24 1996 2017
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 23 1995 2017
dbSNP: rs80357662
rs80357662
BRCA1
3 0.925 0.200 17 43093975 frameshift variant T/- delins 0.700 1.000 21 1996 2016
dbSNP: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 19 2001 2017
dbSNP: rs80358344
rs80358344
BRCA1
3 0.925 0.200 17 43067618 inframe deletion ACA/- delins 0.700 1.000 16 1996 2016
dbSNP: rs80357276
rs80357276
BRCA1
3 0.925 0.200 17 43115738 missense variant T/A;C snv 0.700 1.000 15 2001 2015
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 14 2001 2017
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016
dbSNP: rs80356880
rs80356880
BRCA1
5 0.851 0.080 17 43115750 missense variant G/C;T snv 0.700 1.000 13 2001 2015
dbSNP: rs80357112
rs80357112
BRCA1
4 0.882 0.080 17 43051063 missense variant C/A;G;T snv 0.700 1.000 13 2004 2016
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 13 1994 2017
dbSNP: rs80357164
rs80357164
BRCA1
5 0.851 0.200 17 43115745 missense variant A/C;G;T snv 0.700 1.000 12 2003 2016
dbSNP: rs80357569
rs80357569
BRCA1
4 0.882 0.200 17 43094515 frameshift variant T/-;TT delins 0.700 1.000 12 1994 2017
dbSNP: rs80357867
rs80357867
BRCA1
4 0.882 0.200 17 43063346 frameshift variant CTTT/- delins 0.700 1.000 12 1997 2017
dbSNP: rs80358044
rs80358044
BRCA1
7 0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 0.700 1.000 12 2001 2017
dbSNP: rs80358083
rs80358083
BRCA1
3 0.925 0.200 17 43106453 splice region variant T/A;C snv 7.0E-06 0.700 1.000 12 1997 2014
dbSNP: rs80357281
rs80357281
BRCA1
4 0.882 0.200 17 43051104 missense variant A/G snv 0.700 1.000 11 2004 2016
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 1.000 11 1998 2016
dbSNP: rs80357636
rs80357636
BRCA1
3 0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06 0.700 1.000 11 1996 2017
dbSNP: rs80357714
rs80357714
BRCA1
4 0.925 0.200 17 43094150 frameshift variant -/T delins 0.700 1.000 11 1996 2017
dbSNP: rs80356993
rs80356993
BRCA1
3 0.925 0.120 17 43063937 missense variant A/G;T snv 0.700 1.000 10 2001 2011
dbSNP: rs80357074
rs80357074
BRCA1
1 17 43057075 missense variant C/G;T snv 0.700 1.000 10 1998 2011
dbSNP: rs80357508
rs80357508
BRCA1
4 0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05 0.700 1.000 10 1995 2017