chr1:154465420:T>C Detail (hg38) (IL6R)

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Information

Genome

Assembly	Position
hg19	chr1:154,437,896-154,437,896 View the variant detail on this assembly version.
hg38	chr1:154,465,420-154,465,420

Summary

Links

Type	Database	ID	Link
Gene	MIM	147880	OMIM
	HGNC	6019	HGNC
	Ensembl	ENSG00000160712	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3297157	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2024-01-24	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	arteriosclerosis	The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238...	BeFree	21835044	Detail
0.127	Coronary heart disease	A genome-wide association study for coronary artery disease identifies a novel s...	GWASCAT	22319020	Detail
0.003	coronary artery disease	[We have identified a novel locus in the MHC associated with CAD. MHC genes regu...	GAD	22319020	Detail
<0.001	atherosclerosis	The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238...	BeFree	21835044	Detail
<0.001	Dyslipidemias	The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238...	BeFree	21835044	Detail
0.151	obesity	Boys who carry the GG genotype of CRP +2147 A/G and the CC genotype of IL-6R rs2...	BeFree	20856253	Detail
0.005	atherosclerosis	The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238...	BeFree	21835044	Detail
0.120	arteriosclerosis	The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238...	BeFree	21835044	Detail

Annotation

Descrption	Source	Links
NM_000565.4(IL6R):c.*40T>C AND not specified	ClinVar	Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im...	DisGeNET	Detail
A genome-wide association study for coronary artery disease identifies a novel susceptibility locus ...	DisGeNET	Detail
[We have identified a novel locus in the MHC associated with CAD. MHC genes regulate inflammation an...	DisGeNET	Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im...	DisGeNET	Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im...	DisGeNET	Detail
Boys who carry the GG genotype of CRP +2147 A/G and the CC genotype of IL-6R rs2229238 C/T have a gr...	DisGeNET	Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im...	DisGeNET	Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr1:154,465,420-154,465,420
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs2229238
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8066
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 13519
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8614
East Asian Allele Counts (ExAC): 7296
East Asian Heterozygous Counts (ExAC): 1098
East Asian Homozygous Counts (ExAC): 3099
East Asian Allele Frequency (ExAC): 0.8469932667750174
Chromosome Counts in All Race (ExAC): 118992
Allele Counts in All Race (ExAC): 94901
Heterozygous Counts in All Race (ExAC): 18927
Homozygous Counts in All Race (ExAC): 37987
Allele Frequency in All Race (ExAC): 0.7975410111604141

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