Disease: Squamous cell carcinoma of esophagus
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
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 37
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36 18