Disease: Malignant neoplasm of breast
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 62
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 55
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 47
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1801157
CXCL12
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs895819
MIR23A ; LOC284454 ; MIR27A ; MIR24-2
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1205
CRP
0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 45
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 45
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 40
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs20576
TNFRSF10A
0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 33
rs1800624
PBX2 ; AGER
0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31