Gene: BRCA2 ×
Source: BEFREE ×
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: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
dbSNP: rs11571833
rs11571833
BRCA2
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2016 2018
dbSNP: rs55854959
rs55854959
BRCA2
3 0.882 0.120 13 32330979 missense variant G/A snv 2.4E-05 1.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs80358721
rs80358721
BRCA2
3 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs876658943
rs876658943
BRCA2
3 0.882 0.120 13 32332593 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015