chr19:39252525:T>G Detail (hg38) (IFNL3)

Information

Genome

Assembly Position
hg19 chr19:39,743,165-39,743,165 View the variant detail on this assembly version.
hg38 chr19:39,252,525-39,252,525

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.101
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2021-03-29 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Benign 2018-03-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.220 hepatitis C This study demonstrated that Indonesian patients with chronic hepatitis C (mostl... BeFree 24696021 Detail
0.220 hepatitis C To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8... BeFree 23135173 Detail
0.033 HIV Infections The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs72486... BeFree 23103287 Detail
<0.001 Hepatitis C, Chronic We genotyped chronic hepatitis C (CHC) genotype 1 patients with PegIFN/R treatme... BeFree 21931540 Detail
0.028 Hepatitis C, Chronic These results demonstrate that the genotypes rs12979860 CC and rs8099917 TT were... BeFree 21907615 Detail
0.220 hepatitis C Common IL28B locus polymorphisms (SNPs rs8099917 and rs12979860) have been repor... BeFree 21112660 Detail
0.008 Hepatitis C, Chronic To assess the role of the ss469415590 variant, compared with the known IL28B pol... BeFree 24308755 Detail
0.028 Hepatitis C, Chronic To compare the role of IFNL4 polymorphism with the two commonly used IL28B SNPs ... BeFree 24205831 Detail
0.220 hepatitis C Polymorphism of the IL28B gene (rs8099917, rs12979860) and virological response ... BeFree 25462177 Detail
0.002 Liver diseases Impact of host IL28B rs12979860, rs8099917 in interferon responsiveness and adva... BeFree 24914551 Detail
0.031 hepatitis C Common IL28B locus polymorphisms (SNPs rs8099917 and rs12979860) have been repor... BeFree 21112660 Detail
0.005 Hepatitis B, Chronic To evaluate the role of host IL28B (interleukin 28B; interferon lambda 3) single... BeFree 22310928 Detail
0.031 hepatitis C The association of rs12979860 and rs8099917 single nucleotide polymorphisms (SNP... BeFree 25225180 Detail
0.033 HIV Infections Polymorphisms of rs12979860 and rs8099917 near IL28B only associate with the tre... BeFree 23029188 Detail
0.095 Hepatitis C, Chronic The aim of this study was to characterize the genetic profile of patients with c... BeFree 24678513 Detail
0.018 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ... BeFree 22192885 Detail
0.220 hepatitis C Interleukin-28B rs12979860C/T and rs8099917T/G contribute to spontaneous clearan... BeFree 23266640 Detail
0.095 Hepatitis C, Chronic Association of IFNL3 rs12979860 and rs8099917 with biochemical predictors of int... BeFree 24204859 Detail
0.014 hepatitis C The G allele for IL-10 (-1082 A/G), the C allele for IL-4 (+3 C/T) and the C and... BeFree 22986179 Detail
0.010 Virus Diseases Association of IFNL3 rs12979860 and rs8099917 with biochemical predictors of int... BeFree 24204859 Detail
0.220 hepatitis C Recent genome-wide association studies have identified two host single-nucleotid... BeFree 21704279 Detail
0.042 hepatitis C The G allele for IL-10 (-1082 A/G), the C allele for IL-4 (+3 C/T) and the C and... BeFree 22986179 Detail
0.095 Hepatitis C, Chronic With the screening for IL28B polymorphisms rs12980275, rs8099917 and rs12979860,... BeFree 21149916 Detail
0.095 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ... BeFree 22192885 Detail
<0.001 Acute hepatitis C Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ... BeFree 22192885 Detail
0.031 Hepatitis C, Chronic These results demonstrate that the genotypes rs12979860 CC and rs8099917 TT were... BeFree 21907615 Detail
0.095 Hepatitis C, Chronic Recent studies in chronic hepatitis C patients have shown that rs368234815 polym... BeFree 25130512 Detail
0.220 hepatitis C Two single nucleotide polymorphisms (SNP, rs8099917, rs12979860) near the IL28B ... BeFree 22257210 Detail
<0.001 Hepatitis D, Chronic The IFNL3 polymorphisms rs12979860 and rs8099917 do not significantly affect res... BeFree 24582569 Detail
0.220 hepatitis C rs12979860 and rs8099917 interleukin-28B polymorphisms are associated with spont... BeFree 24387833 Detail
0.095 Hepatitis C, Chronic Strong prediction of virological response to combination therapy by IL28B gene v... BeFree 24102823 Detail
0.220 hepatitis C The association of rs12979860 and rs8099917 single nucleotide polymorphisms (SNP... BeFree 25225180 Detail
0.002 Coinfection We tested the association of spontaneous clearance and three single nucleotide p... BeFree 25803108 Detail
0.095 Hepatitis C, Chronic The set of odds ratios of studies demonstrated an association between SNP (rs129... BeFree 21382156 Detail
0.009 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.011 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.220 hepatitis C A nationwide, multi-center prospective study in Japan determined IL28B (rs809991... BeFree 24910341 Detail
0.008 Fibrosis, Liver No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.009 Steatohepatitis No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.003 Fatty Liver No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
0.002 Steatohepatitis No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic ste... BeFree 24349054 Detail
<0.001 cryoglobulinemia Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A... BeFree 25661337 Detail
<0.001 cryoglobulinemia Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A... BeFree 25661337 Detail
<0.001 tropical spastic paraparesis IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-asso... BeFree 25233462 Detail
0.220 hepatitis C [IL28B SNP rs8099917 is strongly associated with pegylated interferon-I+- and ri... GAD 21048934 Detail
0.037 tropical spastic paraparesis IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-asso... BeFree 25233462 Detail
0.220 hepatitis C Impact of donor and recipient single nucleotide polymorphisms of IL28B rs8099917... BeFree 24599320 Detail
0.220 hepatitis C Genotype rs8099917 near the IL28B gene and amino acid substitution at position 7... BeFree 21879313 Detail
0.220 hepatitis C A total of 272 patients infected with hepatitis C virus (HCV) genotype 1b were g... BeFree 22095536 Detail
0.006 liver carcinoma The results showed that the IL28B rs8099917 AA genotype (AA vs AC + CC: odds rat... BeFree 24026885 Detail
0.220 hepatitis C [The association of the IL28B locus with natural and treatment-associated contro... GAD 20060832 Detail
0.005 Cirrhosis Multivariable analysis identified four independent factors that were significant... BeFree 24117654 Detail
0.095 Hepatitis C, Chronic Genotype rs8099917 near the IL28B gene and amino acid substitution at position 7... BeFree 21879313 Detail
0.006 liver carcinoma We genotyped the rs8099917 single-nucleotide polymorphism in 351 hepatitis C-ass... BeFree 23689989 Detail
0.009 hepatitis B In conclusion, these results suggested a IL28B rs8099917T allele predispose for ... BeFree 25664396 Detail
0.220 hepatitis C Predicting sustained viral response to hepatitis C using a rapid and simple IL28... BeFree 22387386 Detail
0.008 liver cirrhosis Multivariable analysis identified four independent factors that were significant... BeFree 24117654 Detail
0.029 Hepatitis C, Chronic We therefore investigated 16 KIR genotypes along with HLA-B and -C ligands and a... BeFree 24349500 Detail
0.033 HIV Infections [IL28B SNP rs8099917 is strongly associated with pegylated interferon-I+- and ri... GAD 21048934 Detail
0.095 Hepatitis C, Chronic However, there was no observed association of IL28B rs8099917 polymorphism with ... BeFree 25703417 Detail
0.220 hepatitis C [Potential role for interleukin-28B genotype in treatment decision-making in rec... GAD 20803561 Detail
0.008 Fibrosis, Liver The present study was designed to assess the contribution of these SNPs to disea... BeFree 22863264 Detail
0.220 hepatitis C Rs12979860 and rs8099917 single nucleotide polymorphisms of interleukin-28B gene... BeFree 24396987 Detail
<0.001 hepatitis C We established the use of tetra-primer amplification refractory mutation system ... BeFree 22387386 Detail
0.033 HIV Infections IL28B SNP rs8099917 is strongly associated with pegylated interferon-α and ribav... BeFree 21048934 Detail
<0.001 Sensory neuropathy IL28B-rs8099917 and IL10-1082 have been associated with perturbations of the Th1... BeFree 23777929 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent The prevalence of the interleukin 28B rs8099917 TT variant in patients who devel... BeFree 22356575 Detail
0.030 hepatitis C The rs8099917 genotype and total PEG-IFN dose were associated with SVR in patien... BeFree 22156487 Detail
0.031 hepatitis C The rs8099917 genotype and total PEG-IFN dose were associated with SVR in patien... BeFree 22156487 Detail
0.010 Virus Diseases The genotyping and viral-serological analysis for 340 individuals showed that IL... BeFree 22336134 Detail
<0.001 prediabetes syndrome The prevalence of the interleukin 28B rs8099917 TT variant in patients who devel... BeFree 22356575 Detail
0.006 liver carcinoma In conclusion, these results suggested a IL28B rs8099917T allele predispose for ... BeFree 25664396 Detail
0.002 hepatitis C Genotype rs8099917 near the IL28B gene and amino acid substitution at position 7... BeFree 21879313 Detail
0.005 Icterus [Potential role for interleukin-28B genotype in treatment decision-making in rec... GAD 20803561 Detail
0.004 Fibrosis, Liver The present study was designed to assess the contribution of these SNPs to disea... BeFree 22863264 Detail
0.001 Fibrosis, Liver The present study was designed to assess the contribution of these SNPs to disea... BeFree 22863264 Detail
0.003 Hepatitis C, Chronic Genotype rs8099917 near the IL28B gene and amino acid substitution at position 7... BeFree 21879313 Detail
0.095 Hepatitis C, Chronic Variation at the IL-28B locus was recently reported to be a significant predicti... BeFree 21503910 Detail
<0.001 Fibrosis, Liver Multivariate analysis revealed that a baseline HCV viral load &lt;400,000 IU/mL ... BeFree 21254157 Detail
<0.001 Non-alcoholic Fatty Liver Disease No significant differences were found in allelic and genotypic frequencies of rs... BeFree 22257210 Detail
<0.001 hepatitis C Because the first three SNPs were in very strong linkage disequilibrium with one... BeFree 21254157 Detail
0.095 Hepatitis C, Chronic Patients with genotype 1b chronic hepatitis C (n = 446) treated with peg-interfe... BeFree 23297176 Detail
0.003 anemia ITPA rs1127354 is useful for the prediction of ribavirin-induced anemia in the e... BeFree 23012624 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000019.10:g.39252525T>G AND interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavi... ClinVar Detail
NC_000019.10:g.39252525T>G AND peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprev... ClinVar Detail
NC_000019.10:g.39252525T>G AND not provided ClinVar Detail
This study demonstrated that Indonesian patients with chronic hepatitis C (mostly ethnic Java people... DisGeNET Detail
To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8099917, rs7248668, a... DisGeNET Detail
The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated... DisGeNET Detail
We genotyped chronic hepatitis C (CHC) genotype 1 patients with PegIFN/R treatment-induced clearance... DisGeNET Detail
These results demonstrate that the genotypes rs12979860 CC and rs8099917 TT were more frequently obs... DisGeNET Detail
Common IL28B locus polymorphisms (SNPs rs8099917 and rs12979860) have been reported to affect peg-in... DisGeNET Detail
To assess the role of the ss469415590 variant, compared with the known IL28B polymorphisms (rs809991... DisGeNET Detail
To compare the role of IFNL4 polymorphism with the two commonly used IL28B SNPs rs12979860 and rs809... DisGeNET Detail
Polymorphism of the IL28B gene (rs8099917, rs12979860) and virological response of Pakistani hepatit... DisGeNET Detail
Impact of host IL28B rs12979860, rs8099917 in interferon responsiveness and advanced liver disease i... DisGeNET Detail
Common IL28B locus polymorphisms (SNPs rs8099917 and rs12979860) have been reported to affect peg-in... DisGeNET Detail
To evaluate the role of host IL28B (interleukin 28B; interferon lambda 3) single nucleotide polymorp... DisGeNET Detail
The association of rs12979860 and rs8099917 single nucleotide polymorphisms (SNPs) near IL28B with s... DisGeNET Detail
Polymorphisms of rs12979860 and rs8099917 near IL28B only associate with the treatment response to P... DisGeNET Detail
The aim of this study was to characterize the genetic profile of patients with chronic hepatitis C v... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ inducible protein 1... DisGeNET Detail
Interleukin-28B rs12979860C/T and rs8099917T/G contribute to spontaneous clearance of hepatitis C vi... DisGeNET Detail
Association of IFNL3 rs12979860 and rs8099917 with biochemical predictors of interferon responsivene... DisGeNET Detail
The G allele for IL-10 (-1082 A/G), the C allele for IL-4 (+3 C/T) and the C and T alleles for IL-28... DisGeNET Detail
Association of IFNL3 rs12979860 and rs8099917 with biochemical predictors of interferon responsivene... DisGeNET Detail
Recent genome-wide association studies have identified two host single-nucleotide polymorphisms (SNP... DisGeNET Detail
The G allele for IL-10 (-1082 A/G), the C allele for IL-4 (+3 C/T) and the C and T alleles for IL-28... DisGeNET Detail
With the screening for IL28B polymorphisms rs12980275, rs8099917 and rs12979860, which are associate... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ inducible protein 1... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in IL28B and serum levels of interferon γ inducible protein 1... DisGeNET Detail
These results demonstrate that the genotypes rs12979860 CC and rs8099917 TT were more frequently obs... DisGeNET Detail
Recent studies in chronic hepatitis C patients have shown that rs368234815 polymorphism nearby IL28B... DisGeNET Detail
Two single nucleotide polymorphisms (SNP, rs8099917, rs12979860) near the IL28B gene have been illus... DisGeNET Detail
The IFNL3 polymorphisms rs12979860 and rs8099917 do not significantly affect responses of patients w... DisGeNET Detail
rs12979860 and rs8099917 interleukin-28B polymorphisms are associated with spontaneous or interferon... DisGeNET Detail
Strong prediction of virological response to combination therapy by IL28B gene variants rs12979860 a... DisGeNET Detail
The association of rs12979860 and rs8099917 single nucleotide polymorphisms (SNPs) near IL28B with s... DisGeNET Detail
We tested the association of spontaneous clearance and three single nucleotide polymorphisms (SNPs) ... DisGeNET Detail
The set of odds ratios of studies demonstrated an association between SNP (rs12987960/rs8099917) in ... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
A nationwide, multi-center prospective study in Japan determined IL28B (rs8099917) genotype, (TA)n o... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibr... DisGeNET Detail
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit... DisGeNET Detail
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit... DisGeNET Detail
IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-associated myelopathy/tr... DisGeNET Detail
[IL28B SNP rs8099917 is strongly associated with pegylated interferon-I+- and ribavirin therapy trea... DisGeNET Detail
IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-associated myelopathy/tr... DisGeNET Detail
Impact of donor and recipient single nucleotide polymorphisms of IL28B rs8099917 in living donor liv... DisGeNET Detail
Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region... DisGeNET Detail
A total of 272 patients infected with hepatitis C virus (HCV) genotype 1b were grouped according to ... DisGeNET Detail
The results showed that the IL28B rs8099917 AA genotype (AA vs AC + CC: odds ratio (OR) = 0.63, 95 %... DisGeNET Detail
[The association of the IL28B locus with natural and treatment-associated control of HCV indicates t... DisGeNET Detail
Multivariable analysis identified four independent factors that were significantly associated with S... DisGeNET Detail
Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region... DisGeNET Detail
We genotyped the rs8099917 single-nucleotide polymorphism in 351 hepatitis C-associated HCC patients... DisGeNET Detail
In conclusion, these results suggested a IL28B rs8099917T allele predispose for susceptibility to ch... DisGeNET Detail
Predicting sustained viral response to hepatitis C using a rapid and simple IL28B rs8099917 genotypi... DisGeNET Detail
Multivariable analysis identified four independent factors that were significantly associated with S... DisGeNET Detail
We therefore investigated 16 KIR genotypes along with HLA-B and -C ligands and a genetic variant of ... DisGeNET Detail
[IL28B SNP rs8099917 is strongly associated with pegylated interferon-I+- and ribavirin therapy trea... DisGeNET Detail
However, there was no observed association of IL28B rs8099917 polymorphism with treatment response i... DisGeNET Detail
[Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C viru... DisGeNET Detail
The present study was designed to assess the contribution of these SNPs to disease progression in pa... DisGeNET Detail
Rs12979860 and rs8099917 single nucleotide polymorphisms of interleukin-28B gene: simultaneous genot... DisGeNET Detail
We established the use of tetra-primer amplification refractory mutation system polymerase chain rea... DisGeNET Detail
IL28B SNP rs8099917 is strongly associated with pegylated interferon-α and ribavirin therapy treatme... DisGeNET Detail
IL28B-rs8099917 and IL10-1082 have been associated with perturbations of the Th1/Th2 balance, whilst... DisGeNET Detail
The prevalence of the interleukin 28B rs8099917 TT variant in patients who developed DM (70.0%) at E... DisGeNET Detail
The rs8099917 genotype and total PEG-IFN dose were associated with SVR in patients with hepatitis C ... DisGeNET Detail
The rs8099917 genotype and total PEG-IFN dose were associated with SVR in patients with hepatitis C ... DisGeNET Detail
The genotyping and viral-serological analysis for 340 individuals showed that IL-28B genotype distri... DisGeNET Detail
The prevalence of the interleukin 28B rs8099917 TT variant in patients who developed DM (70.0%) at E... DisGeNET Detail
In conclusion, these results suggested a IL28B rs8099917T allele predispose for susceptibility to ch... DisGeNET Detail
Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region... DisGeNET Detail
[Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C viru... DisGeNET Detail
The present study was designed to assess the contribution of these SNPs to disease progression in pa... DisGeNET Detail
The present study was designed to assess the contribution of these SNPs to disease progression in pa... DisGeNET Detail
Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region... DisGeNET Detail
Variation at the IL-28B locus was recently reported to be a significant predictive factor of viral r... DisGeNET Detail
Multivariate analysis revealed that a baseline HCV viral load &lt;400,000 IU/mL was the strongest pr... DisGeNET Detail
No significant differences were found in allelic and genotypic frequencies of rs8099917 IL28B gene p... DisGeNET Detail
Because the first three SNPs were in very strong linkage disequilibrium with one another (r2 = 0.94-... DisGeNET Detail
Patients with genotype 1b chronic hepatitis C (n = 446) treated with peg-interferon alpha and ribavi... DisGeNET Detail
ITPA rs1127354 is useful for the prediction of ribavirin-induced anemia in the early phase after the... DisGeNET Detail
Gene
-
dbSNP
rs8099917 dbSNP
Genome
hg38
Position
chr19:39,252,525-39,252,525
Variant Type
snv
Reference Allele
T
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs8099917
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1014
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1700
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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