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: rs1555600876
rs1555600876
BRCA1 ; NBR2
1 1.000 17 43124027 inframe deletion ACT/- del 0.700 1.000 18 1995 2014
dbSNP: rs751656678
rs751656678
BRCA1
1 1.000 17 43093028 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 15 2003 2017
dbSNP: rs45444999
rs45444999
BRCA1
1 1.000 17 43063882 missense variant C/A;T snv 0.700 1.000 13 2001 2019
dbSNP: rs80357111
rs80357111
BRCA1 ; NBR2
2 1.000 17 43124095 start lost A/C;G snv 0.700 1.000 4 2000 2011
dbSNP: rs397509035
rs397509035
BRCA1
1 1.000 17 43092409 stop gained G/A;C snv 0.700 1.000 3 2005 2016
dbSNP: rs80356873
rs80356873
BRCA1
1 1.000 17 43045734 stop gained G/A;T snv 0.700 1.000 3 2005 2012
dbSNP: rs1057517637
rs1057517637
BRCA1
1 1.000 17 43047669 frameshift variant -/C delins 4.0E-06 0.700 1.000 2 2000 2016
dbSNP: rs1555592956
rs1555592956
BRCA1
1 1.000 17 43094662 frameshift variant A/- delins 0.700 1.000 2 2001 2017
dbSNP: rs1555593294
rs1555593294
BRCA1
1 1.000 17 43094832 inframe deletion TAC/- del 0.700 1.000 2 1999 2011
dbSNP: rs397507239
rs397507239
BRCA1
1 1.000 17 43067614 stop gained T/A;G snv 4.0E-06; 3.2E-05 0.700 1.000 2 2012 2015
dbSNP: rs397509051
rs397509051
BRCA1
2 1.000 17 43092246 frameshift variant T/- delins 0.700 1.000 2 2009 2011
dbSNP: rs397509230
rs397509230
BRCA1
1 1.000 17 43063878 stop gained A/C;T snv 0.700 1.000 2 2009 2014
dbSNP: rs80356872
rs80356872
BRCA1
2 1.000 17 43092610 stop gained A/G;T snv 0.700 1.000 2 2010 2011
dbSNP: rs80357533
rs80357533
BRCA1
2 1.000 17 43092245 frameshift variant G/- del 7.0E-06 0.700 1.000 2 2006 2014
dbSNP: rs80357707
rs80357707
BRCA1
2 1.000 17 43094737 frameshift variant GAAC/- del 0.700 1.000 2 2002 2016
dbSNP: rs80357728
rs80357728
BRCA1
2 1.000 17 43115776 frameshift variant CA/- del 0.700 1.000 2 2008 2010
dbSNP: rs80357922
rs80357922
BRCA1
1 1.000 17 43093535 frameshift variant G/- delins 0.700 1.000 2 2012 2016
dbSNP: rs1173155015
rs1173155015
BRCA1
1 1.000 17 43071026 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs273898681
rs273898681
BRCA1
1 1.000 17 43093330 frameshift variant CTTTTTCTTCTCTT/- delins 0.700 1.000 1 2011 2011
dbSNP: rs273902792
rs273902792
BRCA1
1 1.000 17 43094683 stop gained A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs397507216
rs397507216
BRCA1
1 1.000 17 43092028 frameshift variant T/-;TT delins 0.700 1.000 1 2011 2011
dbSNP: rs397508912
rs397508912
BRCA1
2 1.000 17 43106485 frameshift variant AC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs397509141
rs397509141
BRCA1
2 1.000 17 43090992 frameshift variant GA/- delins 0.700 1.000 1 2006 2006
dbSNP: rs397509195
rs397509195
BRCA1
1 1.000 17 43071154 stop gained G/C snv 0.700 1.000 1 2012 2012
dbSNP: rs397509258
rs397509258
BRCA1
1 1.000 17 43051088 stop gained A/C;T snv 0.700 1.000 1 2000 2000