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: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 8 1998 2015
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.700 0
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 0
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: rs80357382
rs80357382
BRCA1
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.700 1.000 7 2001 2019
dbSNP: rs55770810
rs55770810
BRCA1
10 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
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 2 1995 2013
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 5 1994 2012
dbSNP: rs80356952
rs80356952
BRCA1
9 0.790 0.200 17 43093901 stop gained G/A snv 0.700 1.000 2 2005 2012
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 2 1998 2007
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs80357750
rs80357750
BRCA1
8 0.790 0.200 17 43115759 frameshift variant G/- delins 0.700 0
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: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 7 1996 2016
dbSNP: rs397507419
rs397507419
BRCA2
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 0
dbSNP: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.700 0
dbSNP: rs886039920
rs886039920
BRCA1
7 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 0.700 0
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: 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: rs80357327
rs80357327
BRCA1
6 0.827 0.200 17 43115730 missense variant A/C;G;T snv 0.700 1.000 12 2001 2016