Gene: BRCA2 ×
Source: CURATED ×
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: rs11571833
rs11571833
BRCA2
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.875 4 2013 2017
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1555283031
rs1555283031
BRCA2
2 0.925 0.080 13 32337423 frameshift variant ACAT/- del 0.700 0
dbSNP: rs397507990
rs397507990
BRCA2
2 0.925 0.080 13 32370999 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs80359011
rs80359011
BRCA2
4 0.882 0.200 13 32362574 stop gained G/A;C snv 0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359598
rs80359598
BRCA2
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs80359770
rs80359770
BRCA2
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0