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: rs80357997
rs80357997
BRCA1
3 0.925 0.200 17 43063889 frameshift variant C/-;CC delins 0.700 1.000 12 1995 2017
dbSNP: rs80358079
rs80358079
BRCA1
6 0.827 0.200 17 43057147 intron variant C/T snv 0.700 1.000 12 2000 2015
dbSNP: rs80358344
rs80358344
BRCA1
3 0.925 0.200 17 43067618 inframe deletion ACA/- delins 0.700 1.000 12 1996 2015
dbSNP: rs80358650
rs80358650
BRCA2
3 0.925 0.200 13 32316463 start lost G/A;T snv 0.700 1.000 12 2003 2015
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 1.000 12 2000 2018
dbSNP: rs80359380
rs80359380
BRCA2
5 0.851 0.200 13 32337618 frameshift variant -/T;TT delins 0.700 1.000 12 2001 2014
dbSNP: rs80359403
rs80359403
BRCA2
3 0.925 0.200 13 32338097 frameshift variant TGAG/- delins 0.700 1.000 12 2002 2017
dbSNP: rs81002858
rs81002858
BRCA2
3 0.925 0.200 13 32326497 splice acceptor variant A/C;G snv 0.700 1.000 12 2003 2016
dbSNP: rs80357086
rs80357086
BRCA1
8 0.851 0.200 17 43106480 stop gained A/G;T snv 0.710 1.000 11 1995 2019
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 11 1998 2012
dbSNP: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 11 2002 2017
dbSNP: rs80357463
rs80357463
BRCA1
4 0.882 0.200 17 43051098 missense variant A/C;T snv 0.700 1.000 11 2003 2016
dbSNP: rs80357524
rs80357524
BRCA1
3 0.925 0.200 17 43093098 frameshift variant G/-;GG delins 0.700 1.000 11 2005 2017
dbSNP: rs80357721
rs80357721
BRCA1
3 0.925 0.200 17 43045749 frameshift variant T/- del 0.700 1.000 11 1996 2016
dbSNP: rs80357727
rs80357727
BRCA1
3 0.925 0.200 17 43091489 frameshift variant CT/- delins 7.0E-06 0.700 1.000 11 1998 2016
dbSNP: rs80357772
rs80357772
BRCA1
4 0.925 0.200 17 43094549 frameshift variant AT/- del 0.700 1.000 11 1996 2016
dbSNP: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 11 1996 2016
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 11 2001 2018
dbSNP: rs80359395
rs80359395
BRCA2
3 0.925 0.200 13 32338035 frameshift variant TG/- del 0.700 1.000 11 1999 2016
dbSNP: rs80359470
rs80359470
BRCA2
3 0.925 0.200 13 32339229 frameshift variant AA/-;AAA delins 7.0E-06 0.700 1.000 11 2001 2017
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 1.000 10 2002 2016
dbSNP: rs80357526
rs80357526
BRCA1
4 0.882 0.200 17 43093575 frameshift variant CTTT/- delins 7.0E-06 0.700 1.000 10 1999 2017
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 10 1997 2018
dbSNP: rs80359180
rs80359180
BRCA2
6 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 1.000 10 2003 2016