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: rs1800709
rs1800709
BRCA1
6 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.700 1.000 14 2004 2017
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 9 1996 2014
dbSNP: rs55914168
rs55914168
BRCA1
1 1.000 17 43093180 stop gained G/A;T snv 1.8E-04 3.5E-05 0.700 0
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 0
dbSNP: rs80357579
rs80357579
BRCA1
4 0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 0.700 1.000 2 2006 2013
dbSNP: rs80357433
rs80357433
BRCA1
5 0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 1.000 7 1996 2012
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80357848
rs80357848
BRCA1
3 0.925 0.200 17 43091766 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 12 1994 2012
dbSNP: rs80357970
rs80357970
BRCA1
4 0.882 0.200 17 43093056 frameshift variant G/- del 4.0E-06 1.4E-05 0.700 1.000 7 1995 2014
dbSNP: rs80357508
rs80357508
BRCA1
4 0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05 0.700 1.000 11 1994 2014
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: rs273899695
rs273899695
BRCA1
3 0.925 0.200 17 43104263 splice acceptor variant T/- del 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs80357601
rs80357601
BRCA1
3 0.925 0.200 17 43092526 frameshift variant T/- delins 7.0E-06 0.700 1.000 1 1994 1994
dbSNP: rs1064793951
rs1064793951
BRCA1
1 1.000 17 43076560 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs80357971
rs80357971
BRCA1
3 0.925 0.200 17 43092849 frameshift variant TT/-;T delins 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs751656678
rs751656678
BRCA1
1 1.000 17 43093028 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 15 2003 2017
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs80357636
rs80357636
BRCA1
3 0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs80357043
rs80357043
BRCA1
1 1.000 17 43067628 missense variant G/A snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 9 1994 2015
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
3 0.882 0.200 17 43124063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356989
rs80356989
BRCA1
4 0.882 0.200 17 43082539 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 7 1997 2015
dbSNP: rs397508838
rs397508838
BRCA1
4 0.925 17 43094416 stop gained C/T snv 7.0E-06 0.700 0