Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
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
rs80358893
BRCA2
0.763 0.320 13 32341011 stop gained C/G snv 10
rs80359014
BRCA2
0.763 0.320 13 32362596 missense variant A/G;T snv 10
rs80359031
BRCA2
0.763 0.320 13 32363190 missense variant A/T snv 10
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins 10
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
rs81002899
BRCA2
0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 5
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
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
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10
rs397508045
BRCA2
0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 9
rs80358695
BRCA2
0.882 0.280 13 32339003 stop gained G/C;T snv 4.0E-06 4
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14