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: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2016 2018
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs869320800
rs869320800
BRCA2
2 0.925 0.120 13 32379846 frameshift variant GTAAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1555283322
rs1555283322
BRCA2
3 0.882 0.200 13 32337987 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1566215870
rs1566215870
BRCA2
1 1.000 0.120 13 32319208 frameshift variant GAAACCATCTTATAATCAG/- delins 0.700 0
dbSNP: rs1566221377
rs1566221377
BRCA2
1 1.000 0.120 13 32330960 stop gained GA/CT mnv 0.700 0
dbSNP: rs1566228017
rs1566228017
BRCA2
1 1.000 0.120 13 32337557 frameshift variant GTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA/- del 0.700 0
dbSNP: rs1566231316
rs1566231316
BRCA2
1 1.000 0.120 13 32339248 frameshift variant GTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAA/- delins 0.700 0
dbSNP: rs1566232230
rs1566232230
BRCA2
1 1.000 0.120 13 32339693 frameshift variant G/- del 0.700 0
dbSNP: rs1566233171
rs1566233171
BRCA2
1 1.000 0.120 13 32340115 frameshift variant TTGCTGACATT/- delins 0.700 0
dbSNP: rs1566244975
rs1566244975
BRCA2
1 1.000 0.120 13 32362681 frameshift variant A/- delins 0.700 0
dbSNP: rs1566260318
rs1566260318
BRCA2
1 1.000 0.120 13 32397046 splice donor variant T/C;G snv 0.700 0
dbSNP: rs276174868
rs276174868
BRCA2
4 0.882 0.200 13 32340622 frameshift variant GCA/C delins 4.1E-06 0.700 0
dbSNP: rs397507419
rs397507419
BRCA2
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 0
dbSNP: rs397507591
rs397507591
BRCA2
4 0.882 0.200 13 32332975 frameshift variant G/- delins 0.700 0
dbSNP: rs397507608
rs397507608
BRCA2
2 0.925 0.120 13 32333282 frameshift variant G/- delins 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs587781506
rs587781506
BRCA2
4 0.882 0.200 13 32362594 stop gained G/A snv 0.700 0
dbSNP: rs786203853
rs786203853
BRCA2
3 0.925 0.120 13 32339850 frameshift variant -/T delins 0.700 0
dbSNP: rs80358533
rs80358533
BRCA2
5 0.851 0.200 13 32337185 stop gained A/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 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 0
dbSNP: rs80358920
rs80358920
BRCA2
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
dbSNP: rs80359027
rs80359027
BRCA2
5 0.851 0.200 13 32362693 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs80359277
rs80359277
BRCA2
4 0.882 0.200 13 32332779 frameshift variant AAGAAAGA/-;AAGA delins 4.1E-06 3.5E-05 0.700 0