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: rs398122636
rs398122636
BRCA1
2 0.925 0.200 17 43094018 frameshift variant -/A delins 0.700 1.000 5 2002 2017
dbSNP: rs1555574739
rs1555574739
BRCA1
2 0.925 0.200 17 43047682 frameshift variant -/A delins 0.700 1.000 4 2001 2015
dbSNP: rs80357687
rs80357687
BRCA1
3 0.925 0.200 17 43091771 frameshift variant -/A delins 0.700 1.000 4 1998 2013
dbSNP: rs80357785
rs80357785
BRCA1
2 0.925 0.200 17 43092179 frameshift variant -/A delins 0.700 1.000 3 2012 2018
dbSNP: rs587781487
rs587781487
BRCA1
3 0.925 0.200 17 43099809 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs587782392
rs587782392
BRCA1
3 0.925 0.200 17 43071114 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs863224510
rs863224510
BRCA1
3 0.925 0.200 17 43093487 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs886040079
rs886040079
BRCA1
2 0.925 0.200 17 43092669 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs1555580854
rs1555580854
BRCA1
2 1.000 0.200 17 43071085 frameshift variant -/A delins 0.700 0
dbSNP: rs1555581874
rs1555581874
BRCA1
1 1.000 0.200 17 43074389 frameshift variant -/A delins 0.700 0
dbSNP: rs1555582670
rs1555582670
BRCA1
2 0.925 0.200 17 43076577 frameshift variant -/A delins 0.700 0
dbSNP: rs1555591812
rs1555591812
BRCA1
1 1.000 0.200 17 43094137 frameshift variant -/A delins 0.700 0
dbSNP: rs1555596392
rs1555596392
BRCA1
1 1.000 0.200 17 43104188 frameshift variant -/A delins 0.700 0
dbSNP: rs1567790420
rs1567790420
BRCA1
1 1.000 0.200 17 43091804 frameshift variant -/A delins 0.700 0
dbSNP: rs397509231
rs397509231
BRCA1
2 0.925 0.200 17 43063871 splice donor variant -/A delins 0.700 0
dbSNP: rs80357519
rs80357519
BRCA1
3 0.925 0.200 17 43092695 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs80357734
rs80357734
BRCA1
2 0.925 0.200 17 43106528 frameshift variant -/A delins 0.700 0
dbSNP: rs80357932
rs80357932
BRCA1
3 0.925 0.200 17 43093638 frameshift variant -/A delins 0.700 0
dbSNP: rs80357948
rs80357948
BRCA1
2 0.925 0.200 17 43092918 frameshift variant -/A ins 2.8E-05 0.700 0
dbSNP: rs80357986
rs80357986
BRCA1
2 0.925 0.200 17 43091770 frameshift variant -/A ins 0.700 0
dbSNP: rs864622132
rs864622132
BRCA1
2 0.925 0.200 17 43071204 frameshift variant -/A delins 0.700 0
dbSNP: rs864622350
rs864622350
BRCA1
2 0.925 0.200 17 43099790 frameshift variant -/A delins 0.700 0
dbSNP: rs878854935
rs878854935
BRCA1
2 0.925 0.200 17 43093607 frameshift variant -/A delins 0.700 0
dbSNP: rs879255480
rs879255480
BRCA1
2 0.925 0.200 17 43093581 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs886040027
rs886040027
BRCA1
3 0.925 0.200 17 43093184 frameshift variant -/A delins 0.700 0