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: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 24 2003 2019
dbSNP: rs398122697
rs398122697
BRCA1
2 0.925 0.080 17 43049170 missense variant A/G snv 4.0E-06 0.700 1.000 20 1996 2017
dbSNP: rs1555600876
rs1555600876
BRCA1 ; NBR2
1 1.000 17 43124027 inframe deletion ACT/- del 0.700 1.000 18 1995 2014
dbSNP: rs56214134
rs56214134
BRCA1
2 0.925 0.080 17 43091931 missense variant C/A;G snv 1.2E-04; 2.3E-04 0.700 1.000 18 1996 2017
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 18 1994 2013
dbSNP: rs80357474
rs80357474
BRCA1
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.800 1.000 16 2003 2017
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.700 1.000 14 1994 2013
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
3 0.925 0.080 17 43124044 missense variant A/C;G;T snv 0.700 1.000 14 1996 2019
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 13 1996 2015
dbSNP: rs45444999
rs45444999
BRCA1
1 1.000 17 43063882 missense variant C/A;T snv 0.700 1.000 13 2001 2019
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 12 2001 2019
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 12 2000 2019
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 12 1996 2019
dbSNP: rs80357327
rs80357327
BRCA1
6 0.827 0.200 17 43115730 missense variant A/C;G;T snv 0.700 1.000 12 2001 2016
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 11 2004 2016
dbSNP: rs80357281
rs80357281
BRCA1
4 0.882 0.200 17 43051104 missense variant A/G snv 0.700 1.000 11 2005 2016
dbSNP: rs80358042
rs80358042
BRCA1
3 0.925 0.200 17 43106455 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1995 2019
dbSNP: rs80358086
rs80358086
BRCA1
3 0.925 0.200 17 43070922 splice region variant A/C;G snv 4.0E-06 0.700 1.000 11 2001 2019
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 10 2007 2019
dbSNP: rs80357524
rs80357524
BRCA1
3 0.925 0.200 17 43093098 frameshift variant G/-;GG delins 0.700 1.000 10 2005 2015
dbSNP: rs80357729
rs80357729
BRCA1
5 0.851 0.200 17 43091903 frameshift variant -/T delins 8.0E-06 0.700 1.000 10 2005 2015
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 10 1995 2014
dbSNP: rs28897696
rs28897696
BRCA1
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 1.000 9 2003 2012
dbSNP: rs387906563
rs387906563
BRCA1
4 0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 0.700 1.000 9 1997 2011
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 9 1994 2013