Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555286294
BRCA2
1.000 0.120 13 32356571 frameshift variant G/- del 2
rs80358979
BRCA2
1.000 0.120 13 32356521 missense variant T/C snv 2
rs80359070
BRCA2
0.925 0.120 13 32363421 stop gained T/A snv 2
rs886038169
BRCA2
0.925 0.120 13 32356455 frameshift variant -/TA delins 2
rs1566232471
BRCA2
1.000 0.120 13 32339808 stop gained C/A snv 1
rs1566260827
BRCA2
1.000 0.120 13 32398206 frameshift variant A/- del 1
rs80359130
BRCA2
0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 1
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs397507327
BRCA2
0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 9
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv 9
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs80359180
BRCA2
0.827 0.280 13 32380085 stop gained C/A;G;T snv 6
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv 5
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 5
rs81002899
BRCA2
0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 5
rs80358695
BRCA2
0.882 0.280 13 32339003 stop gained G/C;T snv 4.0E-06 4
rs80359773
BRCA2
0.882 0.280 13 32398184 frameshift variant -/A delins 4
rs81002897
BRCA2
0.882 0.280 13 32326614 splice donor variant G/A;C snv 4
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 3
rs80359200
BRCA2
0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 12
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 11
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 10
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10