Disease: Malignant neoplasm of ovary
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 9
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 9
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 8
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 7
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 6
rs63750695
PMS2
0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 6
rs869312774
PALB2
0.925 0.160 16 23614019 frameshift variant T/- delins 3