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: rs1566260827
rs1566260827
BRCA2
1 1.000 0.120 13 32398206 frameshift variant A/- del 0.700 1.000 1 2018 2018
dbSNP: rs1566232471
rs1566232471
BRCA2
1 1.000 0.120 13 32339808 stop gained C/A snv 0.700 0
dbSNP: rs1555286294
rs1555286294
BRCA2
2 1.000 0.120 13 32356571 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs80358979
rs80358979
BRCA2
2 1.000 0.120 13 32356521 missense variant T/C snv 0.800 1.000 1 2003 2003
dbSNP: rs80359070
rs80359070
BRCA2
2 0.925 0.120 13 32363421 stop gained T/A snv 0.700 0
dbSNP: rs886038169
rs886038169
BRCA2
2 0.925 0.120 13 32356455 frameshift variant -/TA delins 0.700 0
dbSNP: rs80358695
rs80358695
BRCA2
4 0.882 0.280 13 32339003 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs80359773
rs80359773
BRCA2
4 0.882 0.280 13 32398184 frameshift variant -/A delins 0.700 0
dbSNP: rs81002897
rs81002897
BRCA2
4 0.882 0.280 13 32326614 splice donor variant G/A;C snv 0.700 0
dbSNP: rs276174859
rs276174859
BRCA2
5 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 0
dbSNP: rs80359130
rs80359130
BRCA2
5 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 0
dbSNP: rs80359180
rs80359180
BRCA2
6 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 6 2002 2013
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
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: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs80358391
rs80358391
BRCA2
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs80358557
rs80358557
BRCA2
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358807
rs80358807
BRCA2
10 0.763 0.280 13 32340146 stop gained C/T snv 0.700 0
dbSNP: rs80358893
rs80358893
BRCA2
10 0.763 0.320 13 32341011 stop gained C/G snv 0.700 0