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: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 19 2001 2014
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 1.000 19 2000 2017
dbSNP: rs80359198
rs80359198
BRCA2
4 0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05 0.700 1.000 19 1996 2018
dbSNP: rs80359212
rs80359212
BRCA2
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 1.000 18 1990 2015
dbSNP: rs397507419
rs397507419
BRCA2
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 1.000 17 1997 2015
dbSNP: rs80359071
rs80359071
BRCA2
6 0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06 0.700 1.000 17 2004 2016
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 17 1998 2015
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 16 1997 2015
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2016
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 16 2000 2016
dbSNP: rs11571658
rs11571658
BRCA2
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
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: 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