Gene: BRCA2 ×
Source: CURATED ×
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: rs80358920
rs80358920
BRCA2
12 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 1.000 1 2016 2016
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 1 2016 2016
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs276174819
rs276174819
BRCA2
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs483353111
rs483353111
BRCA2
3 0.925 0.200 13 32336949 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs587782780
rs587782780
BRCA2
4 0.925 0.200 13 32336414 frameshift variant GATTA/- del 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs771203198
rs771203198
BRCA2
3 0.925 0.200 13 32394750 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80358529
rs80358529
BRCA2
4 0.925 0.200 13 32319283 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs80359759
rs80359759
BRCA2
4 0.925 0.200 13 32394832 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs81002796
rs81002796
BRCA2
4 0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs878853297
rs878853297
BRCA2
4 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs886037801
rs886037801
BRCA2
2 1.000 0.200 13 32337354 frameshift variant T/-;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs886037802
rs886037802
BRCA2
3 0.925 0.200 13 32339561 stop gained C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507396
rs397507396
BRCA2
3 0.925 0.200 13 32363405 frameshift variant CC/-;C;CCC delins 0.700 0
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80359222
rs80359222
BRCA2
3 0.925 0.200 13 32394913 stop gained A/G;T snv 0.700 0
dbSNP: rs864622401
rs864622401
BRCA2
4 0.882 0.200 13 32339092 frameshift variant -/TG delins 0.700 0
dbSNP: rs878853559
rs878853559
BRCA2
4 0.925 0.200 13 32336450 stop gained C/T snv 0.700 0
dbSNP: rs879255309
rs879255309
BRCA2
4 0.925 0.200 13 32338238 stop gained C/T snv 0.700 0
dbSNP: rs1555284442
rs1555284442
BRCA2
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs397507643
rs397507643
BRCA2
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004