Gene: BRCA1 ×
Source: ALL
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: rs80357074
rs80357074
BRCA1
1 17 43057075 missense variant C/G;T snv 0.700 1.000 10 1998 2011
dbSNP: rs80357442
rs80357442
BRCA1
1 17 43057077 missense variant C/A;G;T snv 3.6E-05 0.700 1.000 7 2003 2011
dbSNP: rs397509243
rs397509243
BRCA1
1 17 43057086 missense variant C/A;T snv 0.700 1.000 5 1975 2016
dbSNP: rs80356905
rs80356905
BRCA1
1 17 43051113 missense variant A/C;G snv 0.700 1.000 5 2000 2010
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 4 2005 2015
dbSNP: rs1555592354
rs1555592354
BRCA1
1 17 43094377 stop gained C/T snv 0.700 1.000 3 2015 2016
dbSNP: rs397509271
rs397509271
BRCA1
1 17 43049165 missense variant C/A snv 0.700 1.000 2 2004 2012
dbSNP: rs1555574034
rs1555574034
BRCA1
1 17 43044407 3 prime UTR variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1555584125
rs1555584125
BRCA1
1 17 43082479 frameshift variant T/- del 0.700 1.000 1 1999 1999
dbSNP: rs111312760
rs111312760
BRCA1
1 17 43094369 stop gained T/A;C snv 0.700 0
dbSNP: rs1432504119
rs1432504119
BRCA1
1 17 43092278 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1484076591
rs1484076591
BRCA1
1 17 43092448 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1555575732
rs1555575732
BRCA1
1 17 43051098 frameshift variant -/T delins 0.700 0
dbSNP: rs1555576868
rs1555576868
BRCA1
1 17 43057079 frameshift variant C/- del 0.700 0
dbSNP: rs1555576921
rs1555576921
BRCA1
1 17 43057092 coding sequence variant -/GGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA delins 0.700 0
dbSNP: rs1555578650
rs1555578650
BRCA1
1 17 43063946 frameshift variant C/- del 0.700 0
dbSNP: rs1555580601
rs1555580601
BRCA1
1 17 43070927 frameshift variant -/A delins 0.700 0
dbSNP: rs1555580773
rs1555580773
BRCA1
1 17 43071043 frameshift variant CAGCAGTATC/- delins 0.700 0
dbSNP: rs1555580912
rs1555580912
BRCA1
1 17 43071111 frameshift variant T/- delins 0.700 0
dbSNP: rs1555581087
rs1555581087
BRCA1
1 17 43071220 stop gained TCCAGGT/C delins 0.700 0
dbSNP: rs1555582069
rs1555582069
BRCA1
1 17 43074501 frameshift variant G/- delins 0.700 0
dbSNP: rs1555582082
rs1555582082
BRCA1
1 17 43074520 frameshift variant A/- del 0.700 0
dbSNP: rs1555586879
rs1555586879
BRCA1
1 17 43091654 frameshift variant CAGAACAT/- del 0.700 0
dbSNP: rs1555587356
rs1555587356
BRCA1
1 17 43091887 frameshift variant CTTCT/- delins 0.700 0
dbSNP: rs1555587497
rs1555587497
BRCA1
1 17 43091962 frameshift variant G/- delins 0.700 0