Gene: BRCA2 ×
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: rs80358547
rs80358547
BRCA2
5 0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs80358527
rs80358527
BRCA2
2 0.925 0.080 13 32316486 missense variant C/A;G;T snv 8.0E-06 0.020 0.500 2 2006 2009
dbSNP: rs80359483
rs80359483
BRCA2
4 0.882 0.200 13 32316509 frameshift variant AC/- delins 0.700 0
dbSNP: rs80358961
rs80358961
BRCA2
2 0.925 0.080 13 32319082 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80359182
rs80359182
BRCA2
2 0.925 0.080 13 32319100 missense variant T/C;G snv 0.710 1.000 1 2019 2019
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80359214
rs80359214
BRCA2
3 0.882 0.200 13 32319102 stop gained G/A;C;T snv 0.700 0
dbSNP: rs397508057
rs397508057
BRCA2
1 1.000 0.080 13 32319103 missense variant T/C snv 0.700 1.000 20 1997 2006
dbSNP: rs80358391
rs80358391
BRCA2
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886040340
rs886040340
BRCA2
4 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs4987046
rs4987046
BRCA2
4 0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03 0.700 1.000 5 2004 2014
dbSNP: rs80358435
rs80358435
BRCA2
11 0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs397507595
rs397507595
BRCA2
1 1.000 0.080 13 32319167 missense variant A/G snv 0.700 1.000 25 1997 2014
dbSNP: rs80358463
rs80358463
BRCA2
1 1.000 0.080 13 32319188 missense variant A/G;T snv 2.4E-05 0.700 0
dbSNP: rs397507615
rs397507615
BRCA2
1 1.000 0.080 13 32319200 missense variant C/T snv 4.0E-06 0.700 1.000 20 1997 2006
dbSNP: rs80358507
rs80358507
BRCA2
1 1.000 0.080 13 32319250 missense variant T/A;C;G snv 2.4E-05; 8.0E-06 0.700 1.000 25 1997 2014
dbSNP: rs80358561
rs80358561
BRCA2
5 0.851 0.200 13 32319323 stop gained T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs80358621
rs80358621
BRCA2
2 0.925 0.080 13 32325138 missense variant G/A;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs80358702
rs80358702
BRCA2
4 0.882 0.080 13 32326150 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs397507822
rs397507822
BRCA2
1 1.000 0.080 13 32326584 missense variant C/G;T snv 0.700 1.000 25 1997 2014
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs397507873
rs397507873
BRCA2
1 1.000 0.080 13 32329475 missense variant C/T snv 0.700 1.000 25 1997 2014
dbSNP: rs730881601
rs730881601
BRCA2
2 0.925 0.080 13 32329480 frameshift variant -/GATA delins 0.700 0
dbSNP: rs81002831
rs81002831
BRCA2
4 0.882 0.200 13 32330918 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs80359671
rs80359671
BRCA2
4 0.882 0.200 13 32331004 frameshift variant TCAAA/- delins 8.0E-06 0.700 0