chr21:34640788:A>G Detail (hg19) (IL10RB, IFNAR2-IL10RB)

Information

Genome

Assembly Position
hg19 chr21:34,640,788-34,640,788
hg38 chr21:33,268,483-33,268,483 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000433395.7:c.799A>G ENST00000433395.7:p.Lys267Glu
Type Transcript Protein
RefSeq NM_000628.4:c.139A>G NP_000619.3:p.Lys47Glu
Ensemble ENST00000290200.7:c.139A>G ENST00000290200.7:p.Lys47Glu
ENST00000609556.3:c.139A>G ENST00000609556.3:p.Lys47Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.542
ToMMo:0.539
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.572

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC
Ensembl ENSG00000249624 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64884576 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 123889 OMIM
HGNC 5965 HGNC
Ensembl ENSG00000243646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64884576 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2006-06-13 no assertion criteria provided Hepatitis B virus, susceptibility to germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts inflammatory bowel disease 25 germline Detail
Benign 2023-11-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Ischemic stroke To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... BeFree 23096091 Detail
0.002 Ischemic Cerebrovascular Accident To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... BeFree 23096091 Detail
<0.001 Lupus Erythematosus, Systemic IL-10RB rs2834167 (A/G) polymorphism is associated with the susceptibility to sy... BeFree 23749100 Detail
0.050 hepatitis B A recent genome-wide association study discovered that two polymorphisms, interf... BeFree 19714778 Detail
0.121 hepatitis B Furthermore, AA genotype of IL10RB-K47E was found to be significantly decreased ... BeFree 23745570 Detail
0.120 Hepatitis B virus, susceptibility to NA CLINVAR Detail
0.121 hepatitis B Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
<0.001 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
0.121 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
<0.001 hepatitis B Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
<0.001 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) AND Hepatitis B virus, susceptibility to ClinVar Detail
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) AND Inflammatory bowel disease 25 ClinVar Detail
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) AND not specified ClinVar Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... DisGeNET Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... DisGeNET Detail
IL-10RB rs2834167 (A/G) polymorphism is associated with the susceptibility to systemic lupus erythem... DisGeNET Detail
A recent genome-wide association study discovered that two polymorphisms, interferon (IFN) alpha rec... DisGeNET Detail
Furthermore, AA genotype of IL10RB-K47E was found to be significantly decreased in chronic HBV patie... DisGeNET Detail
NA DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2834167 dbSNP
Genome
hg19
Position
chr21:34,640,788-34,640,788
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1054
Mean of sample read depth (HGVD)
30.86
Standard deviation of sample read depth (HGVD)
14.89
Number of reference allele (HGVD)
964
Number of alternative allele (HGVD)
1143
Allele Frequency (HGVD)
0.5424774560987186
Gene Symbol (HGVD)
IL10RB
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))
rs2834167
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5391
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9035
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
4939
East Asian Heterozygous Counts (ExAC)
2095
East Asian Homozygous Counts (ExAC)
1422
East Asian Allele Frequency (ExAC)
0.5716435185185185
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
38709
Heterozygous Counts in All Race (ExAC)
24387
Homozygous Counts in All Race (ExAC)
7161
Allele Frequency in All Race (ExAC)
0.3189443501474878
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