Gene: BRCA1 ×
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: rs80357132
rs80357132
BRCA1
1 1.000 0.200 17 43063888 missense variant A/G snv 4.0E-06; 4.0E-06 0.700 1.000 13 1995 2019
dbSNP: rs1555576959
rs1555576959
BRCA1
1 1.000 0.200 17 43057117 frameshift variant CT/- delins 0.700 1.000 6 1996 2016
dbSNP: rs886039675
rs886039675
BRCA1
1 1.000 0.200 17 43045701 frameshift variant G/- delins 0.700 1.000 5 2001 2015
dbSNP: rs1567779838
rs1567779838
BRCA1
1 1.000 0.200 17 43076583 stop gained -/TTCACTA delins 0.700 1.000 3 2003 2013
dbSNP: rs1555592576
rs1555592576
BRCA1
1 1.000 0.200 17 43094469 frameshift variant CATTC/- delins 0.700 1.000 2 1997 2015
dbSNP: rs1555593195
rs1555593195
BRCA1
1 1.000 0.200 17 43094777 frameshift variant G/- del 0.700 1.000 2 2015 2017
dbSNP: rs80357299
rs80357299
BRCA1
1 0.925 0.200 17 43045749 missense variant T/G snv 0.700 1.000 2 2010 2013
dbSNP: rs879254224
rs879254224
BRCA1
1 1.000 0.200 17 43099893 intron variant AAAGAACAGT/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1555596373
rs1555596373
BRCA1
1 1.000 0.200 17 43104184 frameshift variant T/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1567796243
rs1567796243
BRCA1
1 1.000 0.200 17 43093236 frameshift variant C/- del 0.700 1.000 1 2017 2017
dbSNP: rs1567806048
rs1567806048
BRCA1
1 1.000 0.200 17 43099802 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1567811002
rs1567811002
BRCA1
1 1.000 0.200 17 43104866 splice donor variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1567811070
rs1567811070
BRCA1
1 1.000 0.200 17 43104883 frameshift variant AAGC/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1567823254
rs1567823254
BRCA1 ; NBR2
1 1.000 0.200 17 43124031 frameshift variant -/TA ins 0.700 1.000 1 2006 2006
dbSNP: rs1135401840
rs1135401840
BRCA1
1 1.000 0.200 17 43094447 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401843
rs1135401843
BRCA1
1 1.000 0.200 17 43094209 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401847
rs1135401847
BRCA1
1 1.000 0.200 17 43093805 frameshift variant -/C ins 0.700 0
dbSNP: rs1135401853
rs1135401853
BRCA1
1 1.000 0.200 17 43092843 frameshift variant -/T ins 0.700 0
dbSNP: rs1135401858
rs1135401858
BRCA1
1 1.000 0.200 17 43092466 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401860
rs1135401860
BRCA1
1 1.000 0.200 17 43092116 frameshift variant -/C ins 0.700 0
dbSNP: rs1135401869
rs1135401869
BRCA1
1 1.000 0.200 17 43091660 frameshift variant -/G ins 0.700 0
dbSNP: rs1135401873
rs1135401873
BRCA1
1 1.000 0.200 17 43082477 frameshift variant -/C delins 0.700 0
dbSNP: rs1135401878
rs1135401878
BRCA1
1 1.000 0.200 17 43074330 frameshift variant -/T ins 0.700 0
dbSNP: rs1135401879
rs1135401879
BRCA1
1 1.000 0.200 17 43070979 frameshift variant -/TT ins 0.700 0
dbSNP: rs1135401880
rs1135401880
BRCA1
1 1.000 0.200 17 43070925 splice donor variant CA/- delins 0.700 0