Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.020 0.500 2 2004 2014
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.020 1.000 2 2011 2011
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.020 0.500 2 2004 2014
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2008 2008
dbSNP: rs2017000
rs2017000
EGFR
1.000 0.080 7 55174916 intron variant A/G snv 0.24
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2014 2014
dbSNP: rs3197999
rs3197999
APEH ; MST1
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2013 2013
dbSNP: rs3805246
rs3805246
GAB1
0.882 0.120 4 143382955 intron variant G/A snv 0.31
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2014 2014
dbSNP: rs587777005
rs587777005
LGR4
0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.010 1.000 1 2013 2013