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 |
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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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2006-06-13 | no assertion criteria provided | Hepatitis B virus, susceptibility to |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | inflammatory bowel disease 25 |
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Detail |
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2023-11-12 | criteria provided, multiple submitters, no conflicts | not specified |
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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
Descrption | Source | Links |
---|---|---|
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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