Disease: Breast Carcinoma
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
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 19
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs4245739
MDM4
0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 6
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18 3