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: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.050 0.800 5 2011 2015
dbSNP: rs28934571
rs28934571
TP53
0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.030 1.000 3 2018 2019
dbSNP: rs1447295
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2008 2014
dbSNP: rs1682111
rs1682111
ACYP2
0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2017 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2000 2013
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2014 2014
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2013 2018
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2012 2013
dbSNP: rs3787016
rs3787016
POLR2E
0.677 0.280 19 1090804 intron variant A/G snv 0.78
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 0.500 2 2018 2019
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2012 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 0.500 2 2014 2015
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2008 2014
dbSNP: rs843645
rs843645
ACYP2
0.827 0.120 2 54247527 intron variant T/A;G snv 0.19
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2017 2019
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2016 2016
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2016 2016
dbSNP: rs1051861187
rs1051861187
ABCB4
0.827 0.080 7 87409385 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2015 2015
dbSNP: rs121912666
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2018 2018
dbSNP: rs1234220
rs1234220
PTEN
0.851 0.080 10 87885716 intron variant A/G snv 9.1E-02
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2015 2015