IL6-AS1

IL6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:22725395-22727620

Links

ENSG00000179428 ∙ NCBI:541472 ∙ ∙ HGNC:40301 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL6-AS1 gene.

• not provided (4 variants)
• Inborn genetic diseases (2 variants)
• Kaposi sarcoma (1 variants)
• INTERLEUKIN 6 POLYMORPHISM (1 variants)
• Diabetes mellitus, type 1, susceptibility to (1 variants)
• Diabetes mellitus type 2, susceptibility to (1 variants)
• Rheumatoid arthritis, systemic juvenile, susceptibility to (1 variants)
• Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to (1 variants)
• Cholangiocarcinoma (1 variants)
• Crohn disease-associated growth failure, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL6-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	3	3	7
Total	0	0	1	3	3

Variants in IL6-AS1

This is a list of pathogenic ClinVar variants found in the IL6-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-22726602-A-G		INTERLEUKIN 6 POLYMORPHISM	Benign (Mar 01, 2002)
7-22727026-C-G		Kaposi sarcoma • Crohn disease-associated growth failure, susceptibility to • • • Diabetes mellitus type 2, susceptibility to • Diabetes mellitus, type 1, susceptibility to • Cholangiocarcinoma	other; risk factor (Dec 10, 2022)
7-22727515-C-A		IL6-related disorder	Benign (Jun 12, 2018)
7-22727518-C-T			Benign (Dec 31, 2019)
7-22727543-C-A		not specified	Uncertain significance (Aug 13, 2021)
7-22727592-A-C		not specified	Likely benign (Mar 13, 2023)
7-22727607-C-T			Likely benign (Aug 23, 2018)
7-22727619-A-C			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP