chr7:22728953:C>G Detail (hg38) (IL6)

Information

Genome

Assembly Position
hg19 chr7:22,768,572-22,768,572 View the variant detail on this assembly version.
hg38 chr7:22,728,953-22,728,953

HGVS

Type Transcript Protein
RefSeq NM_000600.4:c.324+147C>G
NM_001318095.1:c.96+147C>G
Ensemble ENST00000258743.10:c.324+147C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.070
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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 tgv28609180 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 systemic scleroderma In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-r... BeFree 23027890 Detail
0.003 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.065 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.004 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.011 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.003 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.094 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
Annotation

Annotations

DescrptionSourceLinks
In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 s... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2069840 dbSNP
Genome
hg38
Position
chr7:22,728,953-22,728,953
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs2069840
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0699
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1171
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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