Disease: Breast Carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1056827
CYP1B1 ; CYP1B1-AS1
0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs1042821
MSH6
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs587779287
FBXO11 ; MSH6
0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 5
rs63749820
MLH1
0.882 0.200 3 37007046 stop gained C/T snv 4