Disease: Mammary Neoplasms
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 22
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 8