chr19:39731783:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:39,731,783-39,731,783
hg38 chr19:39,241,143-39,241,143 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.133
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.008 Hepatitis C, Chronic To assess the role of the ss469415590 variant, compared with the known IL28B pol... BeFree 24308755 Detail
0.005 Hepatitis B, Chronic To evaluate the role of host IL28B (interleukin 28B; interferon lambda 3) single... BeFree 22310928 Detail
0.095 Hepatitis C, Chronic With the screening for IL28B polymorphisms rs12980275, rs8099917 and rs12979860,... BeFree 21149916 Detail
<0.001 Fibrosis, Liver The variables significantly associated with SVR in a multivariate analysis were ... BeFree 25072612 Detail
0.008 Fibrosis, Liver The variables significantly associated with SVR in a multivariate analysis were ... BeFree 25072612 Detail
0.009 hepatitis B IL28B genotype was independently associated with R for AA vs. N-AA (OR 2.70, 95%... BeFree 24517415 Detail
0.220 hepatitis C IL28B rs12980275 AA genotype is a strong predictor of positive response to IFN t... BeFree 25852288 Detail
0.095 Hepatitis C, Chronic IL28B rs12980275 polymorphism shows association with response to treatment in Pa... BeFree 25652367 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent We examined the association between IL28B genotype for rs12980275 and risk of ty... BeFree 25663241 Detail
0.002 Fibrosis, Liver The variables significantly associated with SVR in a multivariate analysis were ... BeFree 25072612 Detail
<0.001 Steatohepatitis For all patients, the rs12980275 A allele increased the odds for significant fib... BeFree 23103287 Detail
<0.001 Fatty Liver For all patients, the rs12980275 A allele increased the odds for significant fib... BeFree 23103287 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
Annotation

Annotations

DescrptionSourceLinks
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
To assess the role of the ss469415590 variant, compared with the known IL28B polymorphisms (rs809991... DisGeNET Detail
To evaluate the role of host IL28B (interleukin 28B; interferon lambda 3) single nucleotide polymorp... DisGeNET Detail
With the screening for IL28B polymorphisms rs12980275, rs8099917 and rs12979860, which are associate... DisGeNET Detail
The variables significantly associated with SVR in a multivariate analysis were HCV-genotype (GT) 3 ... DisGeNET Detail
The variables significantly associated with SVR in a multivariate analysis were HCV-genotype (GT) 3 ... DisGeNET Detail
IL28B genotype was independently associated with R for AA vs. N-AA (OR 2.70, 95% CL 1.21-6.01; P = 0... DisGeNET Detail
IL28B rs12980275 AA genotype is a strong predictor of positive response to IFN therapy in Chinese Ha... DisGeNET Detail
IL28B rs12980275 polymorphism shows association with response to treatment in Pakistani patients wit... DisGeNET Detail
We examined the association between IL28B genotype for rs12980275 and risk of type 2 diabetes and di... DisGeNET Detail
The variables significantly associated with SVR in a multivariate analysis were HCV-genotype (GT) 3 ... DisGeNET Detail
For all patients, the rs12980275 A allele increased the odds for significant fibrosis (F ≥ 2) odds r... DisGeNET Detail
For all patients, the rs12980275 A allele increased the odds for significant fibrosis (F ≥ 2) odds r... 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
Gene
-
dbSNP
rs12980275 dbSNP
Genome
hg19
Position
chr19:39,731,783-39,731,783
Variant Type
snv
Reference Allele
A
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))
rs12980275
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1333
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2234
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser