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

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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.

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000433395.7:c.799A>G	ENST00000433395.7:p.Lys267Glu

Summary

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

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

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

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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