chr2:112831216:C>T Detail (hg38) (IL1B)

Information

Genome

Assembly Position
hg19 chr2:113,588,793-113,588,793 View the variant detail on this assembly version.
hg38 chr2:112,831,216-112,831,216

HGVS

Type Transcript Protein
RefSeq NM_000576.2:c.597+76G>A
Ensemble ENST00000263341.7:c.597+76G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.048
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 147720 OMIM
HGNC 5992 HGNC
Ensembl ENSG00000125538 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8209876 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
0.082 Lung diseases SNPs rs1143634 and rs1143639 in the IL1B gene demonstrated a consistent associat... BeFree 19431193 Detail
Annotation

Annotations

DescrptionSourceLinks
SNPs rs1143634 and rs1143639 in the IL1B gene demonstrated a consistent association with lung diseas... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1143639 dbSNP
Genome
hg38
Position
chr2:112,831,216-112,831,216
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1143639
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.048
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
804
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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