Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795649
BRIP1
1.000 0.120 17 61799205 frameshift variant CT/- delins 2
rs28933370
MIR4728 ; ERBB2
0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06 2
rs80356993
BRCA1
0.925 0.120 17 43063937 missense variant A/G;T snv 2
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 1
rs137852691
OPCML
0.925 0.120 11 132657203 missense variant G/A;C snv 8.0E-06 1
rs74315464
ARSA
0.882 0.120 22 50627048 missense variant G/A;C snv 1
rs587782818
RAD51C
0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 3
rs869312774
PALB2
0.925 0.160 16 23614019 frameshift variant T/- delins 3
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins 2
rs1800751
BRCA1
0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 2
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 1
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 1
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 9
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 5
rs587781803
BRCA2
0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 5
rs80357669
BRCA1
0.851 0.200 17 43093074 frameshift variant G/- delins 5
rs80359477
BRCA2
0.851 0.200 13 32339386 frameshift variant AA/-;A delins 5
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 4
rs80357233
BRCA1
0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 4
rs80357438
NBR2 ; BRCA1
0.851 0.200 17 43124032 stop gained A/G;T snv 4
rs767796996
RAD51C
0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06 3
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv 3
rs80357106
BRCA1
0.827 0.200 17 43092212 stop gained C/A snv 3
rs80357115
BRCA1
0.790 0.200 17 43092597 stop gained A/C;T snv 3