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: rs1057518635
rs1057518635
BRCA2
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518637
rs1057518637
BRCA2
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
BRCA2
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1131692035
rs1131692035
BRCA2
2 1.000 13 32332335 stop gained C/G snv 0.700 0
dbSNP: rs1555280073
rs1555280073
BRCA2
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs1555281594
rs1555281594
BRCA2
2 1.000 13 32332276 frameshift variant -/G delins 0.700 0
dbSNP: rs1555282830
rs1555282830
BRCA2
2 1.000 13 32337109 frameshift variant C/- del 0.700 0
dbSNP: rs1555283169
rs1555283169
BRCA2
2 1.000 13 32337677 stop gained A/T snv 0.700 0
dbSNP: rs397507396
rs397507396
BRCA2
3 0.925 0.200 13 32363405 frameshift variant CC/-;C;CCC delins 0.700 0
dbSNP: rs397507644
rs397507644
BRCA2
2 1.000 13 32337198 frameshift variant T/- delins 0.700 0
dbSNP: rs397507649
rs397507649
BRCA2
2 1.000 13 32337345 stop gained T/A;G snv 0.700 0
dbSNP: rs397507967
rs397507967
BRCA2
2 1.000 13 32363397 stop gained T/A;G snv 0.700 0
dbSNP: rs483353077
rs483353077
BRCA2
3 1.000 13 32370470 frameshift variant TTT/AAAA;NNNN 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: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 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: rs276174819
rs276174819
BRCA2
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs397507643
rs397507643
BRCA2
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs397507710
rs397507710
BRCA2
2 1.000 13 32338504 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs397507828
rs397507828
BRCA2
3 1.000 13 32340440 stop gained G/T snv 0.700 1.000 1 2004 2004
dbSNP: rs398122710
rs398122710
BRCA2
1 13 32371100 missense variant G/A snv 0.700 1.000 1 2016 2016