Source: ALL

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: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.020 1.000 2 2013 2016
dbSNP: rs2076310
rs2076310
RXRB
0.925 0.080 6 33198257 intron variant A/G snv 0.27 0.28
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2106261
rs2106261
ZFHX3
0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3219476
rs3219476
MUTYH
0.882 0.200 1 45336998 intron variant A/C snv 0.58
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3769839
rs3769839
SP110 ; SP140
0.925 0.080 2 230211910 intron variant T/C snv 0.12
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.700 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs7731017
rs7731017
DCTN4
0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.700 1.000 1 2018 2018
dbSNP: rs7903146
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs9679162
rs9679162
GALNT14
0.882 0.120 2 31024648 intron variant G/T snv 0.48
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs889312
rs889312 		0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
0.925 0.040 2 136115158 missense variant A/G snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs17851045
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2072671
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2287622
rs2287622
ABCB11
0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs28929474
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs3197999
rs3197999
APEH ; MST1
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2006 2006