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: rs80356937
rs80356937
BRCA1
4 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 1.000 15 2000 2014
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 15 1994 2013
dbSNP: rs80358061
rs80358061
BRCA1
4 0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 0.700 1.000 15 1994 2015
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 1.000 15 2007 2016
dbSNP: rs80359316
rs80359316
BRCA2
3 0.925 0.200 13 32336284 frameshift variant G/- del 0.700 1.000 15 1997 2013
dbSNP: rs80359537
rs80359537
BRCA2
3 0.925 0.200 13 32340150 frameshift variant TA/- delins 0.700 1.000 15 2002 2014
dbSNP: rs80359596
rs80359596
BRCA2
6 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 1.000 15 1997 2012
dbSNP: rs80359598
rs80359598
BRCA2
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 1.000 15 2000 2017
dbSNP: rs80359730
rs80359730
BRCA2
3 0.925 0.200 13 32379465 frameshift variant C/- delins 1.4E-05 0.700 1.000 15 1998 2017
dbSNP: rs276174854
rs276174854
BRCA2
3 0.925 0.200 13 32339499 frameshift variant TATG/- delins 0.700 1.000 14 2002 2015
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 14 2000 2015
dbSNP: rs397515636
rs397515636
BRCA2
4 0.882 0.200 13 32338329 frameshift variant -/TGCT delins 0.700 1.000 14 2000 2015
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 14 1994 2016
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 14 2003 2017
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 14 1997 2013
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 14 2006 2015
dbSNP: rs80359479
rs80359479
BRCA2
3 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2000 2016
dbSNP: rs80359520
rs80359520
BRCA2
3 0.925 0.200 13 32339929 frameshift variant TTAA/- delins 0.700 1.000 14 1996 2016
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 14 1998 2016
dbSNP: rs81002798
rs81002798
BRCA2
3 0.925 0.200 13 32370558 splice donor variant G/A;T snv 0.700 1.000 14 2003 2017
dbSNP: rs28897686
rs28897686
BRCA1
4 0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04 0.700 1.000 13 1994 2015
dbSNP: rs397507954
rs397507954
BRCA2
3 0.925 0.200 13 32363225 missense variant A/G snv 4.0E-06 0.700 1.000 13 2002 2017
dbSNP: rs80356991
rs80356991
BRCA1
6 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 13 1997 2016
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: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 13 1998 2015