chr17:34285875:G>C Detail (hg38) (CCL11)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:32,612,894-32,612,894 View the variant detail on this assembly version.
hg38	chr17:34,285,875-34,285,875

HGVS

CCL11

Type	Transcript	Protein
RefSeq	NM_002986.2:c.67G>C	NP_002977.1:p.Ala23Pro
Ensemble	ENST00000305869.4:c.67G>C	ENST00000305869.4:p.Ala23Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CCL11

Type	Database	ID	Link
Gene	MIM	601156	OMIM
	HGNC	10610	HGNC
	Ensembl	ENSG00000172156	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv398738049	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	diabetes mellitus	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail
0.002	diabetes mellitus	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail
<0.001	Diabetes	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail
0.002	Diabetes	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail
0.001	Diabetes	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail
0.002	diabetes mellitus	In Cox regression model, after adjustment for baseline confounding variables inc...	BeFree	20536507	Detail

Annotation

Annotations

Descrption	Source	Links
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	DisGeNET	Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	DisGeNET	Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	DisGeNET	Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	DisGeNET	Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	DisGeNET	Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo...	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: -
Genome: hg38
Position: chr17:34,285,875-34,285,875
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8512
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120036
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.66616681662168E-5

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