Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74597329
rs74597329
1.000 0.080 19 39248515 missense variant T/A;G snv 0.22
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.700 1.000 2 2019 2019
dbSNP: rs12971396
rs12971396
1.000 0.080 19 39247226 missense variant C/G snv 0.25 0.21
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs377155886
rs377155886
1.000 0.080 19 39247213 missense variant T/C snv 1.6E-03
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs377155886
rs377155886
1.000 0.080 19 39247213 missense variant T/C snv 1.6E-03
CUI: C1849524
Disease: Pygmy (disorder)
Pygmy (disorder)
0.010 1.000 1 2018 2018
dbSNP: rs4803221
rs4803221
1.000 0.080 19 39248489 missense variant C/G snv 0.17 0.21
CUI: C0376705
Disease: Viral Load result
Viral Load result
0.700 1.000 1 2019 2019
dbSNP: rs4803221
rs4803221
1.000 0.080 19 39248489 missense variant C/G snv 0.17 0.21
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.700 1.000 1 2019 2019
dbSNP: rs117648444
rs117648444
0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.030 1.000 3 2017 2019
dbSNP: rs117648444
rs117648444
0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs117648444
rs117648444
0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.100 1.000 18 2014 2019
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.060 1.000 6 2014 2017
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.020 1.000 2 2016 2016
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.020 1.000 2 2015 2016
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C1608426
Disease: Compensated cirrhosis
Compensated cirrhosis
0.010 1.000 1 2015 2015
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C4049393
Disease: Chronic hepatitis C genotype 1a
Chronic hepatitis C genotype 1a
0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0019693
Disease: HIV Infections
HIV Infections
Infections; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0035333
Disease: Retinitis
Retinitis
Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0019158
Disease: Hepatitis
Hepatitis
Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
Infections 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0206178
Disease: Cytomegalovirus Retinitis
Cytomegalovirus Retinitis
Infections; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.100 0.969 196 2009 2019