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
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 21
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs1011970
CDKN2B-AS1
0.677 0.320 9 22062135 intron variant G/T snv 0.23 18
rs4808075
BABAM1 ; USHBP1
0.701 0.280 19 17279482 intron variant T/C snv 0.26 18
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 15
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 10
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 9
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 9
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 8
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs17817449
FTO
0.716 0.560 16 53779455 intron variant T/A;G snv 7
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 6
rs4245739
MDM4
0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 6
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 5
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 5
rs80359770
BRCA2
0.851 0.200 13 32332429 frameshift variant A/-;AA delins 5
rs8170
BABAM1 ; USHBP1
0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 5
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 5
rs2981575
FGFR2
0.882 0.120 10 121586602 intron variant G/A snv 0.54 4
rs2981579
FGFR2
0.776 0.280 10 121577821 intron variant A/G snv 0.53 4
rs4784227
CASC16
0.807 0.160 16 52565276 intron variant C/T snv 0.20 4
rs515726123
PALB2
0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 4