Gene: BARD1 ×
Source: CLINVAR ×
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: rs587780021
rs587780021
BARD1
4 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.700 1.000 7 2012 2016
dbSNP: rs587781948
rs587781948
BARD1
3 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2016 2017
dbSNP: rs587780024
rs587780024
BARD1
3 0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 0.700 1.000 2 2010 2012
dbSNP: rs796666047
rs796666047
BARD1
3 0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs879254139
rs879254139
BARD1
3 0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 0.700 0