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: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 29 1995 2015
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 26 2004 2019
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 23 1997 2014
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 22 1996 2018
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 22 1994 2018
dbSNP: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 20 1995 2016
dbSNP: rs80359507
rs80359507
BRCA2
4 0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05 0.700 1.000 20 1997 2016
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 19 2001 2014
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 19 1994 2014
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 19 1996 2018
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 1.000 19 2000 2017
dbSNP: rs80357061
rs80357061
BRCA1
4 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 18 2003 2016
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 18 1996 2016
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 17 1998 2015
dbSNP: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 16 1996 2014
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 1.000 16 1990 2016
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2016
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 16 2000 2016
dbSNP: rs11571658
rs11571658
BRCA2
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
dbSNP: rs786203663
rs786203663
BRCA1
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 15 1998 2016
dbSNP: rs80356937
rs80356937
BRCA1
4 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 1.000 15 2000 2014
dbSNP: rs80359316
rs80359316
BRCA2
3 0.925 0.200 13 32336284 frameshift variant G/- del 0.700 1.000 15 1997 2013
dbSNP: rs80359537
rs80359537
BRCA2
3 0.925 0.200 13 32340150 frameshift variant TA/- delins 0.700 1.000 15 2002 2014
dbSNP: rs80359596
rs80359596
BRCA2
6 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 1.000 15 1997 2012
dbSNP: rs80359598
rs80359598
BRCA2
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 1.000 15 2000 2017