Disease: Endometrial Carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs28566535
CYP19A1
0.851 0.120 15 51308944 intron variant A/C;G;T snv 4
rs1271572
ESR2
0.708 0.400 14 64295199 intron variant A/C;T snv 16
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv 17
rs17715799
CDH1
0.882 0.120 16 68796608 intron variant A/G;T snv 3
rs3020449
ESR2
0.807 0.200 14 64306674 intron variant A/G;T snv 10
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs743572
CYP17A1
0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 24
rs1056827
CYP1B1 ; CYP1B1-AS1
0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs6443624
PIK3CA
0.776 0.200 3 179179886 intron variant C/A snv 0.30 8
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 28