chr1:206770888:A>G Detail (hg38) (IL10, IL19)

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Information

Genome

Assembly	Position
hg19	chr1:206,944,233-206,944,233 View the variant detail on this assembly version.
hg38	chr1:206,770,888-206,770,888

Summary

Links

Type	Database	ID	Link
Gene	MIM	124092	OMIM
	HGNC	5962	HGNC
	Ensembl	ENSG00000136634	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4568433	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	605687	OMIM
	HGNC	5990	HGNC
	Ensembl	ENSG00000142224	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4568433	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2024-02-01	criteria provided, single submitter	inflammatory bowel disease	germline	Detail
Benign	2023-11-12	criteria provided, single submitter	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
0.006	Cervical Intraepithelial Neoplasia	When compared to controls, the CIN patients showed increased frequencies of CC (...	BeFree	23363891	Detail
0.015	leprosy	Significant associations (P < .05) were observed for 8 polymorphisms (rs18008...	BeFree	21917900	Detail
0.003	leprosy	Significant associations (P < .05) were observed for 8 polymorphisms (rs18008...	BeFree	21917900	Detail
<0.001	leprosy	Significant associations (P < .05) were observed for 8 polymorphisms (rs18008...	BeFree	21917900	Detail
<0.001	leprosy	Significant associations (P < .05) were observed for 8 polymorphisms (rs18008...	BeFree	21917900	Detail

Annotation

Descrption	Source	Links
NM_153758.5(IL19):c.-339A>G AND Inflammatory bowel disease	ClinVar	Detail
NM_153758.5(IL19):c.-339A>G 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
When compared to controls, the CIN patients showed increased frequencies of CC (rs1554286) and AG+GG...	DisGeNET	Detail
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r...	DisGeNET	Detail
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r...	DisGeNET	Detail
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r...	DisGeNET	Detail
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r...	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: rs1554286 dbSNP
Genome: hg38
Position: chr1:206,770,888-206,770,888
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): PASS
# of samples (HGVD): 837
Mean of sample read depth (HGVD): 62.35
Standard deviation of sample read depth (HGVD): 26.45
Number of reference allele (HGVD): 1095
Number of alternative allele (HGVD): 579
Allele Frequency (HGVD): 0.34587813620071683
Gene Symbol (HGVD): IL10
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)): rs1554286
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.342
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5732
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8632
East Asian Allele Counts (ExAC): 2791
East Asian Heterozygous Counts (ExAC): 1917
East Asian Homozygous Counts (ExAC): 437
East Asian Allele Frequency (ExAC): 0.3233317886932345
Chromosome Counts in All Race (ExAC): 121350
Allele Counts in All Race (ExAC): 87001
Heterozygous Counts in All Race (ExAC): 22021
Homozygous Counts in All Race (ExAC): 32490
Allele Frequency in All Race (ExAC): 0.7169427276473012

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