chr7:22731416:T>C Detail (hg38) (IL6)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:22,771,035-22,771,035 View the variant detail on this assembly version.
hg38	chr7:22,731,416-22,731,416

HGVS

IL6

Type	Transcript	Protein
RefSeq	NM_000600.4:c.482T>C	NP_000591.1:p.Leu161Pro
	NM_001318095.1:c.254T>C	NP_001305024.1:p.Leu85Pro
Ensemble	ENST00000258743.10:c.482T>C	ENST00000258743.10:p.Leu161Pro
	ENST00000401630.7:c.413T>C	ENST00000401630.7:p.Leu138Pro
	ENST00000404625.5:c.482T>C	ENST00000404625.5:p.Leu161Pro
	ENST00000407492.5:c.254T>C	ENST00000407492.5:p.Leu85Pro
	ENST00000485300.1:c.644T>C	ENST00000485300.1:p.Leu215Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

IL6

Type	Database	ID	Link
Gene	MIM	147620	OMIM
	HGNC	6018	HGNC
	Ensembl	ENSG00000136244	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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
0.144	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.101	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.129	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.171	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail

Annotation

Annotations

Descrption	Source	Links
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	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: rs369953112 dbSNP
Genome: hg38
Position: chr7:22,731,416-22,731,416
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser